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1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(10): 973-976, 2021 Oct 10.
Artigo em Chinês | MEDLINE | ID: mdl-34625935

RESUMO

OBJECTIVE: Two brothes with Seckel's syndrome 1(SCKL1) were reported and a literature review was carried to provide clinical and genetic information of this rare disease. METHODS: Clinical data of the two children were collected, and the peripheral blood was extracted for whole exome sequencing. Literature of the disease were reviewed. RESULTS: The two patients were 11 years and 9.5 years old when examined for short stature. They presented with intrauterine growth retardation, intellectual disability, microcephaly, birdhead-like face and coffee au lait spots. The bone age was more than 2 years behind the chronical age and the growth hormone levels were normal. Whole exome sequencing revealed novel compound heterozygous variants c.1A>G (p.M1?) and c.4853-18A>G of ART gene in both children. CONCLUSION: Children with prenatal onset short stature, developmental delay, microcephaly and special facial featuresshould be considered for the possibility of Seckel's syndrome, whole exome sequencing could help to confirm the clinical diagnosis.


Assuntos
Nanismo , Deficiência Intelectual , Microcefalia , Proteínas Mutadas de Ataxia Telangiectasia , Criança , Pré-Escolar , Nanismo/genética , Humanos , Deficiência Intelectual/genética , Microcefalia/genética , Irmãos , Sequenciamento Completo do Exoma
2.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 38(8): 757-760, 2021 Aug 10.
Artigo em Chinês | MEDLINE | ID: mdl-34365618

RESUMO

OBJECTIVE: To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome. METHODS: Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis. RESULTS: The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4). CONCLUSION: The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.


Assuntos
Nanismo , Doenças Genéticas Ligadas ao Cromossomo X , Deformidades Congênitas da Mão , Criança , Face/anormalidades , Genitália Masculina/anormalidades , Fatores de Troca do Nucleotídeo Guanina/genética , Deformidades Congênitas da Mão/genética , Cardiopatias Congênitas , Humanos , Masculino , Mutação
3.
Arch Virol ; 166(9): 2495-2504, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34232400

RESUMO

Short beak and dwarfism syndrome (SBDS) emerged in Cherry Valley duck flocks in China in 2015, and novel goose parvovirus (NGPV) was shown to be the etiological agent of SBDS. To date, it is not known whether SBDS-related NGPV isolates possess common molecular characteristics. In this study, three new NGPV strains (namely, SDHT16, SDJN19, and SDLC19) were isolated from diseased ducks showing typical signs of SBDS and successfully passaged in embryonated goose or Cherry Valley duck eggs. The complete genome sequences of these NGPV strains were 98.9%-99.7% identical to each other but showed slightly less similarity (95.2%-96.1% identity) to classical GPV strains. A total of 16 common amino acid substitutions were present in the VP1 proteins of six NGPV strains (SDHT16, SDJN19, SDLC19, QH, JS1, and SDLC01) compared with the classical Chinese GPV strains, nine of which were identical to those found in European GPV strain B. The non-structural protein Rep1 of the six NGPV strains had 12 common amino acid substitutions compared with the classical GPV strains. Phylogenetic analysis indicated that the Chinese NGPV strains clustered with the European SBDS-related NGPV strains, forming a separate branch that was distinct from the group formed by the classical GPV strains. The present study shows the common molecular characteristics of NGPV isolates and suggests that the Chinese NGPV isolates probably share a common ancestor with European SBDS-related NGPV strains.


Assuntos
Nanismo/veterinária , Nanismo/virologia , Parvovirinae/classificação , Parvovirinae/genética , Filogenia , Doenças das Aves Domésticas/virologia , Animais , China , Patos/virologia , Gansos/virologia , Genoma Viral , Infecções por Parvoviridae/virologia , Parvovirus/genética , Alinhamento de Sequência , Sequenciamento Completo do Genoma
4.
BMC Pediatr ; 21(1): 293, 2021 06 30.
Artigo em Inglês | MEDLINE | ID: mdl-34193099

RESUMO

BACKGROUND: The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter. PRESENTATION OF CASES: We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for a spondylodysplastic Ehlers-Danlos subtype. One also suffered from a recurrent pneumothorax. Gene panel analysis identified two compound heterozygous variants in the B4GALT7 gene: c.641G > A and c.723 + 4A > G. B4GALT7 encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans. CONCLUSIONS: This is a first full report on two cases with spondylodysplastic Ehlers-Danlos syndrome and the c.723 + 4A > G variant of B4GALT7. The recurrent pneumothoraces observed in one case expand the variable phenotype of the syndrome.


Assuntos
Nanismo , Síndrome de Ehlers-Danlos , Instabilidade Articular , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Humanos , Instabilidade Articular/genética , Masculino , Fenótipo , Irmãos
5.
Orphanet J Rare Dis ; 16(1): 297, 2021 07 03.
Artigo em Inglês | MEDLINE | ID: mdl-34217350

RESUMO

BACKGROUND: Large-scale genomic analyses have provided insight into the genetic complexity of short stature (SS); however, only a portion of genetic causes have been identified. In this study, we identified disease-causing mutations in a cohort of Korean patients with suspected syndromic SS by targeted exome sequencing (TES). METHODS: Thirty-four patients in South Korea with suspected syndromic disorders based on abnormal growth and dysmorphic facial features, developmental delay, or accompanying anomalies were enrolled in 2018-2020 and evaluated by TES. RESULTS: For 17 of 34 patients with suspected syndromic SS, a genetic diagnosis was obtained by TES. The mean SDS values for height, IGF-1, and IGFBP-3 for these 17 patients were - 3.27 ± 1.25, - 0.42 ± 1.15, and 0.36 ± 1.31, respectively. Most patients displayed distinct facial features (16/17) and developmental delay or intellectual disability (12/17). In 17 patients, 19 genetic variants were identified, including 13 novel heterozygous variants, associated with 15 different genetic diseases, including many inherited rare skeletal disorders and connective tissue diseases (e.g., cleidocranial dysplasia, Hajdu-Cheney syndrome, Sheldon-Hall, acromesomelic dysplasia Maroteaux type, and microcephalic osteodysplastic primordial dwarfism type II). After re-classification by clinical reassessment, including family member testing and segregation studies, 42.1% of variants were pathogenic, 42.1% were likely pathogenic variant, and 15.7% were variants of uncertain significance. Ultra-rare diseases accounted for 12 out of 15 genetic diseases (80%). CONCLUSIONS: A high positive result from genetic testing suggests that TES may be an effective diagnostic approach for patients with syndromic SS, with implications for genetic counseling. These results expand the mutation spectrum for rare genetic diseases related to SS in Korea.


Assuntos
Nanismo , Osteocondrodisplasias , Nanismo/genética , Exoma/genética , Humanos , Mutação/genética , República da Coreia , Sequenciamento Completo do Exoma
6.
Nat Commun ; 12(1): 4067, 2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-34210973

RESUMO

Ataxia Telangiectasia and Rad3-related (ATR) protein, as a key DNA damage response (DDR) regulator, plays an essential function in response to replication stress and controls cell viability. Hypomorphic mutations of ATR cause the human ATR-Seckel syndrome, characterized by microcephaly and intellectual disability, which however suggests a yet unknown role for ATR in non-dividing cells. Here we show that ATR deletion in postmitotic neurons does not compromise brain development and formation; rather it enhances intrinsic neuronal activity resulting in aberrant firing and an increased epileptiform activity, which increases the susceptibility of ataxia and epilepsy in mice. ATR deleted neurons exhibit hyper-excitability, associated with changes in action potential conformation and presynaptic vesicle accumulation, independent of DDR signaling. Mechanistically, ATR interacts with synaptotagmin 2 (SYT2) and, without ATR, SYT2 is highly upregulated and aberrantly translocated to excitatory neurons in the hippocampus, thereby conferring a hyper-excitability. This study identifies a physiological function of ATR, beyond its DDR role, in regulating neuronal activity.


Assuntos
Proteínas Mutadas de Ataxia Telangiectasia/metabolismo , Neurônios/metabolismo , Animais , Proteínas Mutadas de Ataxia Telangiectasia/genética , Linhagem Celular , Nanismo , Fármacos Atuantes sobre Aminoácidos Excitatórios , Facies , Hipocampo , Camundongos , Microcefalia , Mutação , Células de Purkinje , Transdução de Sinais , Sinaptotagmina II/metabolismo
7.
J Equine Vet Sci ; 103: 103643, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34281639

RESUMO

Dwarfism is a skeletal disorder that causes abnormal growth. In Miniature horses, dwarfism can occur as chondrodysplastic dwarfism, an autosomal recessive disorder associated with five mutations (D1, D2, D3*, D4 and c.6465A > T variant) in the aggrecan (ACAN) gene. The aim of this study was to evaluate the expression of aggrecan (at the gene and protein level) and specific cytokines (IL-1ß, IL-6, and TNF-α) in the articular cartilage of Miniature horses with chondrodysplastic dwarfism (D4/c.6465A > T genotype). Metatarsal bone samples from eight dwarf Miniature horses were collected for histopathological analysis, and articular cartilage was collected to detect and quantify aggrecan levels through Western blotting and determine the relative expression levels of ACAN, IL-1ß, IL-6, and TNF-α through qPCR. All affected animals presented chondrodysplasia-like lesions with disorganization of the chondrocyte layers and reduced the amount of an extracellular matrix. No significant difference in aggrecan expression levels in uncleaved samples from the dwarf and control groups (composed of phenotypically normal animals of similar age and breed (P = .7143)) was found using Western blotting. qPCR revealed that ACAN gene expression was higher in the affected animals than in normal animals (P = .0119). No significant difference in cytokine levels was detected between the groups. Mutant aggrecan may interfere with normal cellular function, leading to chondrodysplasia and the observed phenotypic findings.


Assuntos
Cartilagem Articular , Nanismo , Doenças dos Cavalos , Agrecanas/genética , Animais , Nanismo/genética , Nanismo/veterinária , Doenças dos Cavalos/genética , Cavalos , Interleucina-6/genética , Fator de Necrose Tumoral alfa/genética
8.
Ann Glob Health ; 87(1): 48, 2021 06 08.
Artigo em Inglês | MEDLINE | ID: mdl-34164261

RESUMO

Background: Blood transfusion is a traditional treatment for ß-thalassemia (ß-thal) that improves the patients' anemia and lifespan, but it may lead to iron overload in parenchymal tissue organs and endocrine glands that cause their dysfunctions as the iron regulatory system can't excrete excess iron from the bloodstream. Objective: To evaluate the prevalence of iron-related complications (short stature, growth retardation, and growth hormone deficiency) in ß-thalassemia major (ßTM) patients. Methods: We performed an electronic search in PubMed, Scopus, and Web of Sciences to evaluate the prevalence of growth hormone impairment in ß-thalassemia major (ßTM) patients worldwide. Qualities of eligible studies were assessed by the Joanna Briggs Institute checklist for the prevalence study. We used Comprehensive Meta-Analysis (Version 2) to calculate the event rate with 95% CIs, using a random-effects model for all analyses. Findings: Seventy-four studies were included from five continents between 1978 and 2019; 70.27% (Asia), 16.21% (Europe), 6.75% (Africa), 2.70% (America), 1.35% (Oceania), and 2.70% (Multicenter). The overall mean age of the participants was about 14 years. The pooled prevalence of short stature (ST) was 48.9% (95% CI 35.3-62.6) and in male was higher than female (61.9%, 95% CI 53.4-69.7 vs. 50.9%, CI 41.8-59.9). The pooled prevalence of growth retardation (GR) was 41.1% and in male was higher than in female (51.6%, 95% CI 17.8-84 vs. 33.1%, CI 9.4-70.2). The pooled prevalence of growth hormone deficiency (GHD) was 26.6% (95% CI 16-40.8). Conclusion: Our study revealed that near half of thalassemia patients suffer from growth impairments. However, regular evaluation of serum ferritin levels, close monitoring in a proper institute, suitable and acceptable treatment methods besides regular chelation therapy could significantly reduce the patients' complications.


Assuntos
Nanismo , Doenças do Sistema Endócrino , Sobrecarga de Ferro/complicações , Talassemia beta , Adolescente , Transfusão de Sangue , Estatura , Feminino , Humanos , Masculino , Talassemia beta/complicações , Talassemia beta/epidemiologia , Talassemia beta/terapia
9.
RNA ; 27(9): 1046-1067, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34162742

RESUMO

RNA exosomopathies, a growing family of diseases, are linked to missense mutations in genes encoding structural subunits of the evolutionarily conserved, 10-subunit exoribonuclease complex, the RNA exosome. This complex consists of a three-subunit cap, a six-subunit, barrel-shaped core, and a catalytic base subunit. While a number of mutations in RNA exosome genes cause pontocerebellar hypoplasia, mutations in the cap subunit gene EXOSC2 cause an apparently distinct clinical presentation that has been defined as a novel syndrome SHRF (short stature, hearing loss, retinitis pigmentosa, and distinctive facies). We generated the first in vivo model of the SHRF pathogenic amino acid substitutions using budding yeast by modeling pathogenic EXOSC2 missense mutations (p.Gly30Val and p.Gly198Asp) in the orthologous S. cerevisiae gene RRP4 The resulting rrp4 mutant cells show defects in cell growth and RNA exosome function. Consistent with altered RNA exosome function, we detect significant transcriptomic changes in both coding and noncoding RNAs in rrp4-G226D cells that model EXOSC2 p.Gly198Asp, suggesting defects in nuclear surveillance. Biochemical and genetic analyses suggest that the Rrp4 G226D variant subunit shows impaired interactions with key RNA exosome cofactors that modulate the function of the complex. These results provide the first in vivo evidence that pathogenic missense mutations present in EXOSC2 impair the function of the RNA exosome. This study also sets the stage to compare exosomopathy models to understand how defects in RNA exosome function underlie distinct pathologies.


Assuntos
Exorribonucleases/genética , Complexo Multienzimático de Ribonucleases do Exossomo/genética , Mutação de Sentido Incorreto , RNA Fúngico/genética , Proteínas de Ligação a RNA/genética , Proteínas de Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/genética , Sequência de Aminoácidos , Substituição de Aminoácidos , Ácido Aspártico/química , Ácido Aspártico/metabolismo , Nanismo/enzimologia , Nanismo/genética , Nanismo/patologia , Exorribonucleases/química , Exorribonucleases/metabolismo , Complexo Multienzimático de Ribonucleases do Exossomo/química , Complexo Multienzimático de Ribonucleases do Exossomo/metabolismo , Facies , Expressão Gênica , Glicina/química , Glicina/metabolismo , Perda Auditiva/enzimologia , Perda Auditiva/genética , Perda Auditiva/patologia , Humanos , Modelos Biológicos , Modelos Moleculares , Conformação Proteica , RNA Fúngico/química , RNA Fúngico/metabolismo , Proteínas de Ligação a RNA/química , Proteínas de Ligação a RNA/metabolismo , Retinite Pigmentosa/enzimologia , Retinite Pigmentosa/genética , Retinite Pigmentosa/patologia , Saccharomyces cerevisiae/enzimologia , Proteínas de Saccharomyces cerevisiae/química , Proteínas de Saccharomyces cerevisiae/metabolismo , Homologia de Sequência de Aminoácidos , Síndrome
10.
Twin Res Hum Genet ; 24(3): 187-190, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-34137366

RESUMO

Selective termination is the term used for the elimination of an abnormal fetus. In contrast, multifetal pregnancy reduction refers to the termination of one or more members of a twin or higher-order multiple birth set, respectively, to reduce the high risks associated with these pregnancies. The procedure can also be used when a serious physical condition is detected prenatally in a member of a multiple birth set. In a minority of cases, selective termination has reduced two healthy fetuses to one when parents wanted just one additional child in the family. In the present article, the perspectives of a surviving twin whose family wished to terminate both healthy fetuses are examined. Next, past and present twin studies of primordial dwarfism, public service motivation, an analytical model, the global twinning rate and germline differences are summarized. The article concludes with a synopsis of twin-related news that covers twins and Dyngus Day, triplets born in an Austrian displaced persons' camp, the film Superior - about estranged identical twin sisters, a couple adopting their own twins after surrogacy and a new case of twins and primordial dwarfism, a condition introduced in the research reviews.


Assuntos
Nanismo , Refugiados , Áustria , Criança , Feminino , Células Germinativas , Humanos , Motivação , Gravidez , Gêmeos Monozigóticos
11.
Curr Opin Pediatr ; 33(4): 458-463, 2021 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-34101704

RESUMO

PURPOSE OF REVIEW: Short stature is a common clinical manifestation in children. Yet, a cause is often unidentifiable in the majority of children with short stature by a routine screening approach. The purpose of this review is to describe the optimal genetic approach for evaluating short stature, challenges of genetic testing, and recent advances in genetic testing for short stature. RECENT FINDINGS: Genetic testing, such as karyotype, chromosomal microarray, targeted gene sequencing, or exome sequencing, has served to identify the underlying genetic causes of short stature. When determining which short stature patient would benefit from genetic evaluation, it is important to consider whether the patient would have a single identifiable genetic cause. Specific diagnoses permit clinicians to predict responses to growth hormone treatment, to understand the phenotypic spectrum, and to understand any associated co-morbidities. SUMMARY: The continued progress in the field of genetics and enhanced capabilities provided by genetic testing methods expands the ability of physicians to evaluate children with short stature for underlying genetic defects. Continued effort is needed to elaborate new genetic causes of linear growth disorders, therefore, we expand the list of known genes for short stature, which will subsequently increase the rate of genetic diagnosis for children with short stature.


Assuntos
Nanismo , Estatura/genética , Criança , Nanismo/diagnóstico , Nanismo/genética , Testes Genéticos , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Humanos , Sequenciamento Completo do Exoma
13.
Eur J Endocrinol ; 185(2): 323-332, 2021 Jul 07.
Artigo em Inglês | MEDLINE | ID: mdl-34125705

RESUMO

Context: Short stature in children is a common reason for referral to pediatric endocrinologists. The underlying cause of short stature remains unclear in many cases and patients often receive unsatisfactory, descriptive diagnoses. While textbooks underline the rarity of genetic causes of growth hormone (GH) insensitivity and the severity of its associated growth failure, increased genetic testing in patients with short stature of unclear origin has revealed gene defects in the GH/insulin-like growth factor (IGF-I) axis associated with milder phenotypes. As such, heterozygous IGF1 gene defects have been reported as a cause of mild and severe short stature. Here, we aimed to describe the clinical and hormonal profile of children with IGF1 haploinsufficiency and their short-term response to growth hormone treatment (GHT). Case descriptions: We describe five patients presenting with short stature, microcephaly, and in four out of five born small for gestational age diagnosed with IGF1 haploinsufficiency. The phenotype of these patients resembles that of previously described cases with similar gene defects. In our series, segregation of the short stature with the IGF1 deletion is evident from the pedigrees and our data suggests a modest response to GHT. Conclusions: This study is the first case series of complete heterozygous IGF1 deletions in children. The specific genetic defects provide a clear image of the phenotype of IGF1 haploinsufficiency - unbiased by heterozygous mutations with possible dominant negative effects on IGF-I function. We increase the evidence for IGF1 haploinsufficiency as a cause of short stature, microcephaly, and SGA.


Assuntos
Nanismo/diagnóstico , Nanismo/genética , Haploinsuficiência/genética , Recém-Nascido Pequeno para a Idade Gestacional/fisiologia , Fator de Crescimento Insulin-Like I/genética , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Linhagem
14.
Genes (Basel) ; 12(5)2021 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-34064542

RESUMO

Diastrophic dysplasia (DTD) is a rare osteochondrodysplasia characterized by short-limbed short stature and joint dysplasia. DTD is caused by mutations in SLC26A2 and is particularly common in the Finnish population. However, the disease incidence in Finland and clinical features in affected individuals have not been recently explored. This registry-based study aimed to investigate the current incidence of DTD in Finland, characterize the national cohort of pediatric subjects with DTD and review the disease-related literature. Subjects with SLC26A2-related skeletal dysplasia, born between 2000 and 2020, were identified from the Skeletal dysplasia registry and from hospital patient registry and their clinical and molecular data were reviewed. Fourteen subjects were identified. Twelve of them were phenotypically classified as DTD and two, as recessive multiple epiphyseal dysplasia (rMED). From the subjects with available genetic data, 75% (9/12) were homozygous for the Finnish founder mutation c.-26+2T>C. Two subjects with rMED phenotype were compound heterozygous for p.Arg279Trp and p.Thr512Lys variants. The variable phenotypes in our cohort highlight the wide spectrum of clinical features, ranging from a very severe form of DTD to milder forms of DTD and rMED. The incidence of DTD in Finland has significantly decreased over the past decades, most likely due to increased prenatal diagnostics.


Assuntos
Nanismo/patologia , Fenótipo , Transportadores de Sulfato/genética , Adolescente , Criança , Nanismo/epidemiologia , Nanismo/genética , Feminino , Finlândia , Efeito Fundador , Genes Recessivos , Heterozigoto , Homozigoto , Humanos , Masculino , Mutação , Adulto Jovem
16.
Mol Med Rep ; 24(1)2021 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-33955509

RESUMO

Short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome is a rare autosomal recessive disease caused by POC1 centriolar protein A (POC1A) pathogenic variants. However, knowledge of genotypic and phenotypic features of SOFT syndrome remain limited as few families have been examined; therefore, the clinical identification of SOFT syndrome remains a challenge. The aim of the present case report was to investigate the genetic cause of this syndrome in a patient with a short stature, unusual facial appearance, skeletal dysplasia and sparse body hair. Giemsa banding and exome sequencing were performed to investigate the genetic background of the family. Spiral computed tomography and magnetic resonance imaging were used for investigating further phenotypic features of the patient. Exome sequencing identified that POC1A had two compound heterozygous variants, namely c.850_851insG and c.593_605delGTGGGACGTGCAT, which, to the best of our knowledge, have not been reported elsewhere. Novel phenotypes were also identified as follows: i) Metaphyseal dysplasia was alleviated (and/or even disappeared) with age; ii) the density of the femoral neck was uneven and the hyperintensity signal of the metaphysis was stripe­like. Thus, the present case report expands the knowledge regarding phenotypic and genotypic features of SOFT syndrome.


Assuntos
Anormalidades Múltiplas/genética , Proteínas de Ciclo Celular/genética , Anormalidades Craniofaciais/genética , Proteínas do Citoesqueleto/genética , Nanismo/genética , Cabelo/anormalidades , Atrofia Muscular/genética , Unhas Malformadas/genética , Osteocondrodisplasias/genética , Anormalidades Múltiplas/diagnóstico por imagem , Criança , Anormalidades Craniofaciais/diagnóstico por imagem , Feminino , Humanos , Atrofia Muscular/diagnóstico por imagem , Unhas Malformadas/congênito , Osteocondrodisplasias/diagnóstico por imagem , Fenótipo , Sequenciamento Completo do Exoma
17.
Am J Med Genet C Semin Med Genet ; 187(2): 192-198, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33982873

RESUMO

Dwarfism has been depicted in various Chinese art forms including literature, sculpture, and painting. This article examines several representative Chinese works of art from different ages of Chinese history, in order to glimpse the living situations of people with dwarfism, their professions and social status, as well as the social attitude toward them in China. We highlight "" (Shan Hai Jing, translated as the Classic of Mountains and Seas), a remarkable collection of myths and illustrations which documented the existence of dwarf communities where the residents were capable of producing high-quality grains. Representations from sculptures and paintings frequently captured the images of individuals with dwarfism in royal courts, which showed their remarkable performance skills and social ability. There are also works of art associating dwarfism with rituals. In addition to portraying ordinary individuals with humble social status, there was one particular individual with dwarfism named Yan Zi () who was highly regarded as a figure of wisdom. Throughout the long Chinese history, dwarfism had been portrayed in art as either positive, neutral or derogatory, which reflected the fact that people with dwarfism, while short in stature, are usually intellectually normal, generally skillful, and often talented, in short, like the general population.


Assuntos
Nanismo , Medicina nas Artes , Pinturas , China , Humanos , Escultura
18.
Indian J Pediatr ; 88(8): 813-818, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-34021867

RESUMO

Genetic disorders can be monogenic or chromosomal. Deletions, duplications, and cryptic imbalances due to rearrangements of the telomeres are seen in a number of patients with psychomotor and language delay. Here, the authors report a case of 1-y-old boy born to nonconsanguineous couple who was evaluated for global developmental delay with phenotypic resemblance to a monogenic disorder namely Robinow syndrome. Cytogenetic microarray showed a double segment imbalance involving chromosome 6p25.3p25.2 and chromosome 8q23.3q24.3. Robinow syndrome also known as fetal face syndrome is a rare disorder with characteristic facial phenotype resembling fetal face with macrocephaly, low-set ears, broad great toes, gum hypertrophy, micropenis, and rhizomelia. Facial features include hypertelorism, wide mouth and short nose with upturned tip. It can have dominant or recessive mode of inheritance. The chromosomal abnormality in this case may provide clue to some novel gene for Robinow syndrome etiology.


Assuntos
Deleção Cromossômica , Trissomia , Cromossomos , Anormalidades Craniofaciais , Nanismo , Humanos , Deformidades Congênitas dos Membros , Masculino , Fenótipo , Trissomia/genética , Anormalidades Urogenitais
19.
Am J Case Rep ; 22: e930824, 2021 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-34057920

RESUMO

BACKGROUND Short stature is the second most common reason for referral to a pediatric endocrinology clinic. Numerous genetic causes have been identified. Weill-Marchesani syndrome (WMS) is one of the rare genetic disorders that cause short stature. It is caused by homozygous mutations in the FBN1 gene, ADAMTS10 gene, ADAMTS17 gene, or LTBP2 gene. Despite genetic heterogeneity, WMS is clinically homogeneous. It is characterized by short stature, brachydactyly, joint stiffness, ocular abnormalities, mainly microspherophakia and glaucoma, and occasionally cardiac defects. CASE REPORT A 9-year-old boy had bilateral narrow-angle glaucoma with lens subluxation, elevated intraocular pressure, and severe myopia since early childhood. He had phenotypic dysmorphic features and radiological findings consistent with WMS. He underwent lensectomy and scleral-fixated intraocular lens implantation as well as drug treatment to control the intraocular pressure. He was a slow grower, and his growth parameters showed disproportionate short stature with brachydactyly and joint stiffness. Growth hormone provocation tests were subnormal with a peak value of 7.89 ng/mL. CONCLUSIONS The constellation of clinical presentation, radiological findings, and the molecular examination confirmed a homozygous familial variant of the ADAMTS10 gene identified by carrier gene testing. This known familial variant creates a premature termination codon classified as a likely pathogenic cause of WMS. In this syndrome, glaucoma treatment is considered the greatest challenge. The disease-causing mechanism in WMS is not known but thought to be due to abnormal actin distribution and organization in fibroblasts as a result of impaired connections between extracellular matrix components and the cytoskeleton.


Assuntos
Nanismo , Ectopia do Cristalino , Glaucoma , Síndrome de Weill-Marchesani , Proteínas ADAMTS/genética , Criança , Pré-Escolar , Homozigoto , Humanos , Proteínas de Ligação a TGF-beta Latente , Masculino , Síndrome de Weill-Marchesani/diagnóstico , Síndrome de Weill-Marchesani/genética
20.
Biol Lett ; 17(5): 20210012, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-34034528

RESUMO

Islands off southern Australia once harboured three subspecies of the mainland emu (Dromaius novaehollandiae), the smaller Tasmanian emu (D. n. diemenensis) and two dwarf emus, King Island emu (D. n. minor) and Kangaroo Island emu (D. n. baudinianus), which all became extinct rapidly after discovery by human settlers. Little was recorded about their life histories and only a few historical museum specimens exist, including a number of complete eggs from Tasmania and a unique egg from Kangaroo Island. Here, we present a detailed analysis of eggs of dwarf emus, including the first record of an almost complete specimen from King Island. Our results show that despite the reduction in size of all island emus, especially the King Island emu that averaged 44% smaller than mainland birds, the egg remained similar sized in linear measurements, but less in volume and mass, and seemingly had a slightly thinner eggshell. We provide possible reasons why these phenomena occurred.


Assuntos
Dromaiidae , Nanismo , Animais , Aves , Ilhas , Austrália do Sul
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