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1.
J Vet Intern Med ; 38(2): 1120-1126, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38332646

RESUMO

BACKGROUND: Data regarding congenital sensorineural deafness (CSD) in client-owned, white Devon Rex cats is limited because most of the information on this disease comes from experiments on mixed-breed cats. OBJECTIVES: Provide data on the occurrence of CSD in a population of client-owned purebred white Devon Rex cats. ANIMALS: Forty client-owned, purebred, white Devon Rex cats examined at 2 different facilities. Median age of the examined cats was 19 weeks. METHODS: Hearing status was defined by use of brainstem auditory evoked responses. RESULTS: The occurrence of sensorineural deafness in the studied population of Devon Rex cats was estimated at 10%. Unilateral and bilateral deafness occurred equally often, with 2 individuals having each (ie, 5.0%). No association between the occurrence of CSD and sex could be found, χ2 (1, n = 40) = 0.001 (P > .99). No association between blue irises and deafness was noted in the studied population, χ2 (1, n = 40) < 0.01 (P > .99). CONCLUSIONS: The occurrence of CSD in a population of client-owned, white Devon Rex cats was found to be lower compared with data obtained in previously conducted studies of deafness in purebred cats. In the studied population of Devon Rex cats, no association between blue irises and CSD was found.


Assuntos
Doenças do Gato , Surdez , Perda Auditiva Neurossensorial , Humanos , Animais , Gatos , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/veterinária , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Surdez/veterinária
2.
BMC Vet Res ; 19(1): 166, 2023 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-37730587

RESUMO

AIM: The current research aimed to evaluate the potential effect of adding platelet-rich fibrin (PRF) to the decellularized bovine pericardium (DBP) on the distal limb of donkeys' full-thickness cutaneous wounds healing (Equus asinus). MATERIALS AND METHODS: Healthy male donkeys (n = 12) were used in this study. Under general anesthesia, 6 cm2 full-thickness incisions were made on the middle dorsolateral surface of both forelimbs' metacarpi. The left forelimbs were control wounds, while the right wounds were treated with PRF/DBP. Control wounds were bandaged with a standard dressing after saline irrigation and were evaluated at days 4, 7, 10, 13, 16, 19, 22, 25, and 28 post-wounding. PRF/DBP-treated wounds were dressed with a combination of PRF/DBP at the first, second, and third weeks post-wounding. Clinical and histopathological examinations of the wounds were performed to assess the healing process. Additionally, the immunohistochemical evaluation and gene expression profiles of myofibroblastic and angiogenic genes (transforming growth factor-ß1, vascular endothelial growth factor-A, fibroblast growth factor 7 (FGF-7), and collagen type 3α1) were analyzed. RESULTS: PRF/DBP wounds had a significantly faster healing process (61.3 ± 2.6 days) than control wounds (90.3 ± 1.4 days) (p < 0.05). The immunohistochemical examination and gene expression profile revealed significant enrichment in PRF/DBP wounds compared to control wounds. CONCLUSION: PRF/DBP dressing can be considered a natural and cost-effective biomaterial for enhancing the recovery of donkeys' distal limb injuries.


Assuntos
Doenças dos Bovinos , Surdez , Fibrina Rica em Plaquetas , Masculino , Bovinos , Animais , Fator A de Crescimento do Endotélio Vascular , Anestesia Geral/veterinária , Bandagens , Surdez/veterinária
3.
Anim Genet ; 54(4): 549-552, 2023 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-37062854

RESUMO

A white calf, with minimal pigmented markings, was born to two registered Black Angus parents. Given the possibility of an unknown recessive or de novo dominant mutation, whole-genome sequencing was conducted on the trio of individuals. A 3-bp in-frame deletion in MITF was identified; this mutation was unique to the calf but identical to the delR217 variant reported in both humans and murine models of Waardenburg syndrome type 2A and Tietz syndrome. Given the coat color phenotype and identity of the mutation, our data support that this calf represents the first instance of this recurring MITF mutation in cattle.


Assuntos
Doenças dos Bovinos , Fator de Transcrição Associado à Microftalmia , Animais , Bovinos/genética , Humanos , Camundongos , Doenças dos Bovinos/genética , Surdez/genética , Surdez/veterinária , Fator de Transcrição Associado à Microftalmia/genética , Mutação , Fenótipo , Deleção de Sequência , Síndrome de Waardenburg/genética , Síndrome de Waardenburg/veterinária
4.
Anim Genet ; 54(1): 73-77, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36308003

RESUMO

Congenital coat-colour-related deafness is common among certain canine breeds especially those exhibiting extreme white spotting or merle patterning. We identified a non-syndromic deafness in Beauceron dogs characterised by a bilateral hearing loss in puppies that is not linked to coat colour. Pedigree analysis suggested an autosomal recessive transmission. By combining homozygosity mapping with whole genome sequencing and variant filtering in affected dogs we identified a CDH23:c.700C>T variant. The variant, located in the CHD23 (cadherin related 23) gene, was predicted to induce a CDH23:p.(Pro234Ser) change in the protein. Proline-234 of CDH23 protein is highly conserved across different vertebrate species. In silico tools predicted the CDH23:p.(Pro234Ser) change to be deleterious. CDH23 encodes a calcium-dependent transmembrane glycoprotein localised near the tips of hair-cell stereocilia in the mammalian inner ear. Intact function of these cilia is mandatory for the transformation of the acoustical wave into a neurological signal, leading to sensorineural deafness when impaired. By genotyping a cohort of 90 control Beauceron dogs sampled in France, we found a 3.3% carrier frequency. The CDH23:c.[700C>T] allele is easily detectable with a genetic test to avoid at-risk matings.


Assuntos
Surdez , Doenças do Cão , Perda Auditiva Neurossensorial , Cães , Animais , Mutação , Perda Auditiva Neurossensorial/genética , Surdez/genética , Surdez/veterinária , Mutação de Sentido Incorreto , Alelos , Mamíferos/genética , Doenças do Cão/genética
5.
Sci Rep ; 12(1): 15439, 2022 09 14.
Artigo em Inglês | MEDLINE | ID: mdl-36104420

RESUMO

Congenital sensorineural deafness (CSD) has been reported to affect up to 30% of Dalmatian dogs world-wide and while unilaterally deaf dogs can live a close to normal life, dogs suffering bilateral deafness are frequently euthanized. Extreme-white coat patterning as encoded by the gene Melanocyte Inducing Transcription Factor (MITF) has long been postulated as the major risk factor for CSD in the Dalmatian breed. While attempts to identify causative risk variants associated with CSD have been numerous, no genome-wide association study has positively identified MITF as a risk locus for either bilateral or unilateral deafness in the Dalmatian breed to date. In this study, we identified an association with CSD on CFA20 in the vicinity of MITF within Australian Dalmatian dogs. Although not genome-wide significant, the association signal was validated by reanalysing publicly available data and merging the wider data resource with the local data to improve statistical power. The merged data, representing three major global populations of Dalmatian dogs, enabled us to identify a single, well-defined genome-wide significant risk haplotype for CSD. The haplotype was formed by three genome-wide significant associated markers (BICF2G630233852T>C, BICF2G630233861T>C, BICF2G630233888G>A) on CFA20 with 62% of bilaterally deaf dogs homozygous for the risk haplotype (CCA), while 30% of bilaterally deaf and 45% of hearing dogs carried one copy of the risk haplotype. Animals homozygous or heterozygous for the low-risk haplotype were less likely to be unilaterally deaf. While the association between the risk haplotype and deafness is incomplete, animals homozygous for the risk haplotype were 10-times more likely to be bilaterally deaf. Although the underlying causative variants are yet to be discovered, results from this study can now assist with reducing deafness in Dalmatian dogs.


Assuntos
Surdez , Doenças do Cão , Perda Auditiva Neurossensorial , Animais , Austrália , Surdez/genética , Surdez/veterinária , Doenças do Cão/genética , Cães , Haplótipos , Perda Auditiva Neurossensorial/congênito , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/veterinária
6.
Artigo em Alemão | MEDLINE | ID: mdl-36067769

RESUMO

OBJECTIVE: Hearing loss occurring in temporal association with the topical application of otic medications is regularly reported to the Federal Office of Consumer Protection and Food Safety (Bundesamt für Verbraucherschutz und Lebensmittelsicherheit - BVL) in the form of adverse event (AE) reports. Although deafness or impaired hearing are listed as possible adverse reactions in the Summary of Product Characteristics of the otic medications approved in Germany little information about the underlying causes is available to date. MATERIAL AND METHODS: A search for cases reporting impaired hearing following the use of otic medication was conducted in the national AE database. Subsequently, descriptive analysis was performed. Due to their small number, cases involving cats were excluded. Possible risk factors and causes of hearing loss were considered against the background of current literature. RESULTS: While dogs of all age groups were affected, the majority of reports referred to dogs older than 10 years of age. Besides crossbreds, dogs of the breeds West Highland White Terrier, Dalmatian, Miniature Poodle and French Bulldog were most frequently involved. The analysis of the available data does not point to specific products or active substances that could be associated with a more frequent occurrence of hearing loss. CONCLUSION AND CLINICAL RELEVANCE: In addition to possible ototoxicity of a product, other causes of hearing loss should be considered. These include the underlying otitis itself, age-related hearing loss, previously undetected unilateral congenital deafness, or conductive deafness due to obstruction of the ear canal. Treatment options include discontinuation of potentially ototoxic substances or treatment of conductive deafness, e. g. by removal of drug residues and exudate or treatment of otitis media. In the case of hearing loss subsequent to the use of otic medication, the BVL should be notified of this event in as much detail as possible in order to further improve the data situation concerning this topic.


Assuntos
Surdez , Doenças do Cão , Otite , Animais , Surdez/etiologia , Surdez/veterinária , Doenças do Cão/induzido quimicamente , Doenças do Cão/tratamento farmacológico , Cães , Alemanha , Otite/induzido quimicamente , Otite/tratamento farmacológico , Otite/veterinária
7.
Am J Vet Res ; 83(10)2022 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-35914095

RESUMO

OBJECTIVE: To assess the presence of suspected pigment-associated deafness in North American yaks (Bos grunniens). ANIMALS: 12 North American yaks, including 11 with the homozygous piebald Royal pigmentation phenotype and 1 with the heterozygous piebald Trim phenotype. PROCEDURES: Hearing was assessed using the brainstem auditory evoked response (BAER) on yaks restrained in the head gate of a grooming chute. RESULTS: Five of the Royal yaks and the Trim yak had hearing in both ears. Six Royal yaks were affected; 3 were deaf in 1 ear and 3 were deaf in both ears. CLINICAL RELEVANCE: For the first time, probable sensorineural deafness has been confirmed to be present in Royal yaks. The disorder is assumed to be congenital and associated with white pigmentation, based on the pattern of occurrence in other species.


Assuntos
Doenças dos Bovinos , Surdez , Animais , Bovinos , Surdez/genética , Surdez/veterinária , América do Norte , Fenótipo , Pigmentação/genética
8.
BMC Vet Res ; 18(1): 287, 2022 Jul 22.
Artigo em Inglês | MEDLINE | ID: mdl-35869465

RESUMO

BACKGROUND: Data on sensorineural deafness (CSD) in purebred white client-owned cats is limited as most of the information on this disease entity is assured from mixed-breed experimental colonies. It is known that cats with blue irises are more predisposed to CSD having been described as a condition in which many structures in the inner ear are damaged resulting in hearing loss. Cats with CSD are born deaf or lose their hearing irreversibly within the first 4-5 weeks of life. It is important to diagnose cats with this hereditary condition in order to eliminate affected individuals from breeding. The objectives of this study were to ensure data on prevalence of CSD in a population of 72 client-owned purebred white cats in Poland according to the color of the irises and to determine if there are any predispositions with regard to CSD among different breeds of cats in which the dominant W gene is present. RESULTS: Conducted study included 72 purebred white cats from six different breeds. The prevalence of CSD in the conducted study was 16.7%, CI95 [8.9%; 23.3%]. Unilateral deafness (11.1%, CI95 [4.9%; 20.7%]) was more common than bilateral CSD (5.6%, CI95 [1.5%; 13.6%]). The studies did not show any association between sex and CSD, p = .46. No association between the blue color of irises and deafness in the studied population could be found, p = .91. When compared to the rest of the examined population, no association was found between CSD and a particular breed. CONCLUSIONS: Overall prevalence of CSD regarding the examined population of purebred client-owned cats was reported as lower when compared to previous studies concerning purebred cats. Cats with blue irises are more likely to be deaf in accordance to the current state of knowledge, however in the conducted study, no significant association between the presence of blue irises and deafness in white purebred cats could be identified. In order to eliminate CSD from the population, it is necessary to conduct examinations and diagnose CSD in white cats with blue irises as well as with irises of color other than blue. Association between particular breed and CSD wasn't identified.


Assuntos
Doenças do Gato , Surdez , Perda Auditiva Neurossensorial , Animais , Doenças do Gato/epidemiologia , Gatos , Surdez/veterinária , Potenciais Evocados Auditivos do Tronco Encefálico , Perda Auditiva Neurossensorial/epidemiologia , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/veterinária , Testes Auditivos , Prevalência
9.
PLoS One ; 17(4): e0264365, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35385474

RESUMO

Domestic dogs exhibit diverse types of both congenital and non-congenital hearing losses. Rhodesian Ridgebacks can suffer from a progressive hearing loss in the early stage of their life, a condition known as early onset adult deafness (EOAD), where they lose their hearing ability within 1-2 years after birth. In order to investigate the genetic basis of this hereditary hearing disorder, we performed a genome-wide association study (GWAS) by using a sample of 23 affected and 162 control Rhodesian Ridgebacks. We identified a genomic region on canine chromosome 18 (CFA18) that is strongly associated with EOAD, and our subsequent targeted Sanger sequencing analysis identified a 12-bp inframe deletion in EPS8L2 (CFA18:25,868,739-25,868,751 in the UMICH_Zoey_3.1/canFam5 reference genome build). Additional genotyping confirmed a strong association between the 12-bp deletion and EOAD, where all affected dogs were homozygous for the deletion, while none of the control dogs was a deletion homozygote. A segregation pattern of this deletion in a 2-generation nuclear family indicated an autosomal recessive mode of inheritance. Since EPS8L2 plays a critical role in the maintenance and integrity of the inner ear hair cells in humans and other mammals, the inframe deletion found in this study represents a strong candidate causal mutation for EOAD in Rhodesian Ridgebacks. Genetic and clinical similarities between childhood deafness in humans and EOAD in Rhodesian Ridgebacks emphasizes the potential value of this dog breed in translational research in hereditary hearing disorders.


Assuntos
Surdez , Doenças do Cão , Perda Auditiva , Animais , Surdez/genética , Surdez/veterinária , Doenças do Cão/genética , Cães , Estudo de Associação Genômica Ampla , Perda Auditiva/genética , Perda Auditiva/veterinária , Mamíferos/genética , Deleção de Sequência
10.
Anim Genet ; 52(5): 694-702, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34318504

RESUMO

Pigment-associated deafness is a common hereditary condition in a range of dog breeds. The aim of this study was to perform a genome-wide association analysis to investigate the genetic architecture of deafness in Australian Cattle Dogs. Genotypes for 104 757 polymorphisms in 216 dogs were available for analyses after quality control. A genomic relationship matrix was used in the mixed model analyses to account for polygenic effects, as we tested each polymorphism for its association with deafness, in a case/control experimental design. Three approaches were used to code the genotypes and test for additive, recessive and dominant SNP effects. The genome-wide association study analyses identified a clear association peak on CFA20, with the most significant SNPs on this chromosome (1.29 × 10-4 ) in the vicinity of MITF. Variants in MITF have been associated with white pigmentation in dogs and with deafness in humans and other species, supporting the premise that canine deafness is associated with variants in or near this gene. A recessive inheritance for the peak in CFA20 is possible given the significant results in the recessive model; however, the estimated heritability was low (4.54 × 10-5 ). Further validation, identification of variants and testing in other dog breeds are needed.


Assuntos
Surdez/veterinária , Doenças do Cão/genética , Cães/genética , Locos de Características Quantitativas , Animais , Austrália , Cruzamento , Surdez/genética , Feminino , Estudos de Associação Genética/veterinária , Genótipo , Masculino , Modelos Genéticos , Polimorfismo de Nucleotídeo Único , Reino Unido , Estados Unidos
11.
Hum Genet ; 140(11): 1611-1618, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33983508

RESUMO

Hearing loss is a common sensory deficit in both humans and dogs. In canines, the genetic basis is largely unknown, as genetic variants have only been identified for a syndromic form of hearing impairment. We observed a congenital or early-onset sensorineural hearing loss in a Rottweiler litter. Assuming an autosomal recessive inheritance, we used a combined approach of homozygosity mapping and genome sequencing to dissect the genetic background of the disorder. We identified a fully segregating missense variant in LOXHD1, a gene that is known to be essential for cochlear hair cell function and associated with nonsyndromic hearing loss in humans and mice. The canine LOXHD1 variant was specific to the Rottweiler breed in our study cohorts of pure-bred dogs. However, it also was present in some mixed-breed dogs, of which the majority showed Rottweiler ancestry. Low allele frequencies in these populations, 2.6% and 0.04%, indicate a rare variant. To summarize, our study describes the first genetic variant for canine nonsyndromic hearing loss, which is clinically and genetically similar to human LOXHD1-related hearing disorder, and therefore, provides a new large animal model for hearing loss. Equally important, the affected breed will benefit from a genetic test to eradicate this LOXHD1-related hearing disorder from the population.


Assuntos
Proteínas de Transporte/genética , Surdez/veterinária , Doenças do Cão/genética , Perda Auditiva Neurossensorial/veterinária , Mutação de Sentido Incorreto , Substituição de Aminoácidos , Animais , Proteínas de Transporte/química , Surdez/genética , Cães , Feminino , Frequência do Gene , Perda Auditiva Neurossensorial/genética , Masculino
12.
BMC Vet Res ; 16(1): 215, 2020 Jun 26.
Artigo em Inglês | MEDLINE | ID: mdl-32586340

RESUMO

BACKGROUND: A negative potential is occasionally recorded in humans and animals with profound deafness during brainstem auditory evoked potential (BAER) tests if loud intensities are used. This acoustically evoked short latency negative response (ASNR) is hypothesized to be of saccular origin. The sensitivity to sound of vestibular end organs is also used to produce vestibular evoked myogenic potentials (VEMP), a test that evaluates vestibular function. The same saccular origin is accepted also for VEMP. CASE PRESENTATION: A neutered male white domestic short hair cat presented with profound deafness and an ASNR in the left ear during BAER test performed when he was 8 months old. BAER tracings were substantially unchanged at the age of 12 years, immediately before euthanasia that was requested by the owner for the presence of an unrelated neoplastic disorder. The cat underwent a complete post-mortem necropsy including histopathology of the middle and inner ears. Histopathologic results confirmed the presence of a cochleosaccular degeneration of the left ear while the cochlea and sacculus of the right ear and the utriculus and semicircular canals of both ears were histologically normal. CONCLUSIONS: This case report describes the auditory and histopathologic findings of a cat that showed an ASNR during BAER test despite the presence of cochleosaccular deafness. These results confirm that a saccular origin for the ASNR in this case, and in general in cats and dogs with congenital deafness associated with white pigmentation, is improbable. The hypothesis that the sacculus is the vestibular end organ responsible for the generation of the ASNR and VEMP in humans comes mainly from animal studies. The findings in this report may change the clinical interpretation of the results of BAER and VEMP not only in companion animals, but in humans as well.


Assuntos
Doenças do Gato/fisiopatologia , Surdez/veterinária , Potenciais Evocados Auditivos do Tronco Encefálico/fisiologia , Sáculo e Utrículo/fisiopatologia , Estimulação Acústica/veterinária , Animais , Gatos , Surdez/fisiopatologia , Perda Auditiva Neurossensorial , Masculino
13.
PLoS One ; 15(5): e0232900, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32413090

RESUMO

Congenital deafness in the domestic dog is usually related to the presence of white pigmentation, which is controlled primarily by the piebald locus on chromosome 20 and also by merle on chromosome 10. Pigment-associated deafness is also seen in other species, including cats, mice, sheep, alpacas, horses, cows, pigs, and humans, but the genetic factors determining why some piebald or merle dogs develop deafness while others do not have yet to be determined. Here we perform a genome-wide association study (GWAS) to identify regions of the canine genome significantly associated with deafness in three dog breeds carrying piebald: Dalmatian, Australian cattle dog, and English setter. We include bilaterally deaf, unilaterally deaf, and matched control dogs from the same litter, phenotyped using the brainstem auditory evoked response (BAER) hearing test. Principal component analysis showed that we have different distributions of cases and controls in genetically distinct Dalmatian populations, therefore GWAS was performed separately for North American and UK samples. We identified one genome-wide significant association and 14 suggestive (chromosome-wide) associations using the GWAS design of bilaterally deaf vs. control Australian cattle dogs. However, these associations were not located on the same chromosome as the piebald locus, indicating the complexity of the genetics underlying this disease in the domestic dog. Because of this apparent complex genetic architecture, larger sample sizes may be needed to detect the genetic loci modulating risk in piebald dogs.


Assuntos
Surdez/veterinária , Doenças do Cão/genética , Animais , Estudos de Casos e Controles , Surdez/congênito , Surdez/genética , Cães , Potenciais Evocados Auditivos , Loci Gênicos , Predisposição Genética para Doença , Estudo de Associação Genômica Ampla , Testes Auditivos , Polimorfismo de Nucleotídeo Único , Seleção Artificial , Pigmentação da Pele/genética
14.
Can J Vet Res ; 83(2): 142-148, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31097876

RESUMO

Bilateral deafness with concurrent vestibular dysfunction was first reported in the Doberman pinscher in 1980. Here, we identify a coding mutation in the MYO7A gene that is perfectly associated with the disorder. The lack of visual deficits in affected dogs suggests that, like rodents but unlike humans, MYO7A is not required for retinal function. DNA testing of the mutation will enable dog breeders to manage the incidence of this genetic defect.


La surdité bilatérale avec dysfonctionnement vestibulaire concomitant a été rapporté pour la première fois chez le Doberman pinscher en 1980. Ici nous identifions une mutation codante dans le gène MYO7A qui est associée parfaitement avec cette condition. L'absence de défaut rétinien chez les chiens atteints suggère que, comme chez les rongeurs mais contrairement aux humains, MYO7A n'est pas requis pour la fonction rétinienne. Les tests d'ADN pour la mutation vont permettre aux éleveurs de chiens de gérer l'incidence de ce défaut génétique.(Traduit par Docteur Serge Messier).


Assuntos
Surdez/veterinária , Doenças do Cão/genética , Predisposição Genética para Doença , Mutação de Sentido Incorreto , Miosinas/genética , Doenças Vestibulares/veterinária , Animais , Estudos de Casos e Controles , DNA/genética , Surdez/genética , Cães , Regulação da Expressão Gênica , Estudo de Associação Genômica Ampla , Genótipo , Miosina VIIa , Miosinas/metabolismo , Doenças Vestibulares/genética , Sequenciamento Completo do Genoma
15.
Anim Genet ; 50(2): 172-174, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30644113

RESUMO

White spotting phenotypes in horses are highly valued in some breeds. They are quite variable and may range from the common white markings up to completely white horses. EDNRB, KIT, MITF, PAX3 and TRPM1 represent known candidate genes for white spotting phenotypes in horses. For the present study, we investigated an American Paint Horse family segregating a phenotype involving white spotting and blue eyes. Six of eight horses with the white-spotting phenotype were deaf. We obtained whole-genome sequence data from an affected horse and specifically searched for structural variants in the known candidate genes. This analysis revealed a heterozygous ~63-kb deletion spanning exons 6-9 of the MITF gene (chr16:21 503 211-21 566 617). We confirmed the breakpoints of the deletion by PCR and Sanger sequencing. PCR-based genotyping revealed that all eight available affected horses from the family carried the deletion. The finding of an MITF variant fits well with the syndromic phenotype involving both depigmentation and an increased risk for deafness and corresponds to human Waardenburg syndrome type 2A. Our findings will enable more precise genetic testing for depigmentation phenotypes in horses.


Assuntos
Surdez/veterinária , Deleção de Genes , Doenças dos Cavalos/genética , Cavalos/genética , Fator de Transcrição Associado à Microftalmia/genética , Animais , Cor , Surdez/genética , Feminino , Masculino , Fator de Transcrição Associado à Microftalmia/metabolismo , Pigmentação/genética , Fatores de Risco , Sequenciamento Completo do Genoma/veterinária
16.
J Comp Neurol ; 525(14): 3110-3125, 2017 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-28643417

RESUMO

Congenital deafness leads to functional deficits in the auditory cortex for which early cochlear implantation can effectively compensate. Most of these deficits have been demonstrated functionally. Furthermore, the majority of previous studies on deafness have involved the primary auditory cortex; knowledge of higher-order areas is limited to effects of cross-modal reorganization. In this study, we compared the cortical cytoarchitecture of four cortical areas in adult hearing and congenitally deaf cats (CDCs): the primary auditory field A1, two secondary auditory fields, namely the dorsal zone and second auditory field (A2); and a reference visual association field (area 7) in the same section stained either using Nissl or SMI-32 antibodies. The general cytoarchitectonic pattern and the area-specific characteristics in the auditory cortex remained unchanged in animals with congenital deafness. Whereas area 7 did not differ between the groups investigated, all auditory fields were slightly thinner in CDCs, this being caused by reduced thickness of layers IV-VI. The study documents that, while the cytoarchitectonic patterns are in general independent of sensory experience, reduced layer thickness is observed in both primary and higher-order auditory fields in layer IV and infragranular layers. The study demonstrates differences in effects of congenital deafness between supragranular and other cortical layers, but similar dystrophic effects in all investigated auditory fields.


Assuntos
Córtex Auditivo/patologia , Doenças do Gato/congênito , Doenças do Gato/patologia , Surdez/veterinária , Animais , Doenças do Gato/fisiopatologia , Gatos , Surdez/congênito , Surdez/patologia , Surdez/fisiopatologia , Potenciais Evocados Auditivos do Tronco Encefálico , Testes Auditivos , Neurônios/patologia , Tamanho do Órgão
17.
J Am Anim Hosp Assoc ; 53(4): 198-205, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28535131

RESUMO

The purpose of this study was to evaluate the use of a hand-held otoacoustic emissions screener to detect deafness in puppies. Specifically, distortion product otoacoustic emissions were recorded from 34 puppies (both sexes) of a variety of breeds, from 6-10 wk of age, and the results were compared to brainstem auditory evoked responses (BAER) recorded from the same puppies. Recordings were obtained from both ears in awake or lightly anesthetized puppies, and the results from each ear were compared. In all 62 ears that had normal BAERs, the distortion product otoacoustic emissions screener gave a response of "Pass." The three puppies that had flat BAER recordings in one or both ears provided a screener result of "Refer." In two ears with unusual BAERs (waveforms with reduced amplitudes and prolonged latencies) and a "Refer" response from the screener, there was compacted debris in one external ear canal, and the other ear canal was normal. The screener technology has proven application in human infants and is an attractive alternative to BAER testing in puppies because of expense and ease of use.


Assuntos
Surdez/veterinária , Doenças do Cão/diagnóstico , Testes Auditivos/veterinária , Emissões Otoacústicas Espontâneas/fisiologia , Animais , Surdez/diagnóstico , Cães , Feminino , Testes Auditivos/instrumentação , Testes Auditivos/métodos , Masculino
18.
J Feline Med Surg ; 19(3): 276-287, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28245737

RESUMO

Practical relevance: Auditory function is a sense that is central to life for cats - being important in situational awareness of potential predators, pursuit of prey, and for communication with conspecifics, humans and other species. Deafness in cats is most frequently the result of a genetic disorder, strongly associated with white fur and blue eyes, but may also result from acquired causes such as advancing age, ototoxic drugs, infection, environmental noise and physical trauma. Deafness can be sensorineural, where there is loss of cochlear hair cells, or conductive, where sound is muffled on its way to the inner ear. Clinical challenges: Establishing whether a cat is deaf can be difficult as behavioral testing of hearing is subjective and does not reliably detect unilateral deafness. Brainstem auditory evoked response testing is an objective measure but is limited in its availability. Currently, sensorineural deafness is irreversible because no treatments are available to restore lost hair cells. Conductive hearing loss can usually be treated, although full hearing recovery following otitis media may take weeks as the body clears the middle ear of debris. Evidence base: The author draws on the published literature and his extensive research on clinical aspects and molecular genetics of deafness, principally in companion animals, to review types and forms of deafness in cats. He also discusses current diagnostic approaches and provides brief advice for managing cats with hearing loss.


Assuntos
Doenças do Gato/diagnóstico , Surdez/veterinária , Animais , Gatos , Surdez/diagnóstico , Potenciais Evocados Auditivos do Tronco Encefálico , Células Ciliadas Auditivas/patologia
19.
Sci Rep ; 6: 23363, 2016 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-26988146

RESUMO

Mutations in the microRNA Mir96 cause deafness in mice and humans. In the diminuendo mouse, which carries a single base pair change in the seed region of miR-96, the sensory hair cells crucial for hearing fail to develop fully and retain immature characteristics, suggesting that miR-96 is important for coordinating hair cell maturation. Our previous transcriptional analyses show that many genes are misregulated in the diminuendo inner ear and we report here further misregulated genes. We have chosen three complementary approaches to explore potential networks controlled by miR-96 using these transcriptional data. Firstly, we used regulatory interactions manually curated from the literature to construct a regulatory network incorporating our transcriptional data. Secondly, we built a protein-protein interaction network using the InnateDB database. Thirdly, gene set enrichment analysis was used to identify gene sets in which the misregulated genes are enriched. We have identified several candidates for mediating some of the expression changes caused by the diminuendo mutation, including Fos, Myc, Trp53 and Nr3c1, and confirmed our prediction that Fos is downregulated in diminuendo homozygotes. Understanding the pathways regulated by miR-96 could lead to potential therapeutic targets for treating hearing loss due to perturbation of any component of the network.


Assuntos
Surdez/genética , Orelha Interna/crescimento & desenvolvimento , Redes Reguladoras de Genes , MicroRNAs/genética , Regiões 3' não Traduzidas , Animais , Animais Recém-Nascidos , Surdez/veterinária , Perfilação da Expressão Gênica/métodos , Regulação da Expressão Gênica , Camundongos , Mutação , Análise de Sequência com Séries de Oligonucleotídeos/métodos
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