Occurrence of malformed calves in April-May 2021 indicates an unnoticed 2020 emergence of Schmallenberg virus in Denmark.

During the European emergence of Schmallenberg virus (SBV) in 2011, examination of Culicoides spp. showed that SBV-infected midges were present across Denmark. However, SBV-associated malformations in ruminant species have not been reported in Denmark. In April 2021, seven calves with severe congenital generalized arthrogryposis and reduced body weight originating from a narrow region of the Jutlandic peninsula were submitted for examination. Analysis of fetal brain tissue for SBV viral RNA and pleural effusion for fetal anti-SBV antibodies identified SBV as the cause of the congenital syndrome. Backwards calculation from the calving dates indicated the occurrence of an unnoticed emergence of SBV in Denmark from early August 2020 and during the late summer and autumn. As SBV-associated malformations may lead to severe dystocia requiring fetotomy or caesarean section, veterinarians performing obstetric intervention are first-line personnel in recognition of SBV emergence in domestic ruminants.

A 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita.

A recessive form of arthrogryposis multiplex congenita (AMC) was detected 20 years ago in the Swiss Large White (SLW) pig population. A diagnostic marker test enabled the identification of carrier animals, but the underlying causal mutation remains unknown. To identify the mutation underlying AMC, we collected SNP chip genotyping data for 11 affected piglets and 23 healthy pigs. Association testing using 47 829 SNPs confirmed that AMC maps to SSC5 (P = 9.4 × 10-13 ). Subsequent autozygosity mapping revealed a common 6.06 Mb region (from 66 757 970 to 72 815 151 bp) of extended homozygosity in 11 piglets affected by AMC. Using WGS data, we detected a 63-bp insertion compatible with the recessive inheritance of AMC in the second exon of KIF21A gene encoding Kinesin Family Member 21A. The 63-bp insertion is predicted to introduce a premature stop codon in KIF21A gene (p.Val41_Phe42insTer) that truncates 1614 amino acids (~97%) from the protein. We found that this deleterious allele still segregates at a frequency of 0.1% in the SLW pig population. Carrier animals can now be detected unambiguously and excluded from breeding.

Arthrogryposis multiplex congenita in Aberdeen Angus cattle in Uruguay / Artrogripose múltipla congênita em bovinos Aberdeen Angus no Uruguai

Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth. The cows had been inseminated using semen imported from Argentina from one elite AA sire only. At necropsy, one calf showed severe muscular atrophy, arthrogryposis affecting all four limbs and the spine, kyphoscoliosis and torticollis. Histopathology showed muscular atrophy with marked fiber size variation and abundant fibroadipose fibers. The central nervous system only showed congestion and edema due to dystocia, whereas the peripheral nerves and the number of motor neurons in the spinal appeared normal. DNA analysis confirmed arthrogryposis multiplex congenita. It is concluded that disease in Aberdeen Angus cattle is due to failure in the neuromuscular junction.(AU)

Artrogripose múltipla congênita é relatada pela primeira vez em bovinos Aberdeen Angus (AA) no Uruguai. Num rebanho comercial de 30 vacas a Aberdeen Angus, dois bezerros com graves malformações musculoesqueléticas morreram logo após o nascimento. As vacas foram inseminadas utilizando sêmen importado da Argentina, de apenas um touro de elite de AA. Na necropsia, um dos bezerros apresentava atrofia muscular grave, artrogripose afetando todos os quatro membros e a coluna vertebral, cifoscoliose e torcicolo. A histopatologia demonstrou atrofia muscular com acentuadas variações no tamanho das fibras e abundantes fibras fibroadiposas. O sistema nervoso central apresentava apenas congestão e edema devido à distocia, enquanto os nervos periféricos e o número de neurônios motores na medula espinhal pareciam normais. A análise de DNA confirmou artrogripose múltipla congênita. Concluiu-se que a doença em bovinos Aberdeen Angus se deve a falha na junção neuromuscular.(AU)

Congenital abnormalities and arthrogryposis in newly born lambs in Al Muthanna province Iraq. Suspicion of Akabane virus infection / Anormalidades congênitas e artrogripose em cordeiros recém-nascidos na província de Al Muthanna, Iraque. Suspeita de infecção pelo vírus Akabane

Akabane virus, a member of the Orthobunyavirus genus in the family Bunyaviridae, causes congenital abnormalities and arthrogryposis with hydrocephalus or hydroencephaly in ruminants. This study intends to describe the clinical signs, gross and histopathological features seen in 25 affected lambs in an outbreak of congenital arthrogryposis with hydrocephalus or hydranencephaly in Al-Muthanna governorate, Iraq after a large number of stillbirths and musculoskeletal deformities from October 2017 to May 2018. Skeletal muscle hypoplasia was seen in the limbs of the affected lambs accompanied with severe arthrogryposis and gross visible brain malformations. In addition, fetal mummifications, stillbirths, and dead lambs were also seen. The most histopathological features in muscle fibers were degenerative lesions and absences of cross-striation accompanied with mild infiltration of neutrophils and mononuclear cells in severely affected lambs. The meninges of affected lambs revealed fused membranes with focal areas of fibrous thickenings and necrotic debris. In conclusion, according to clinical signs, gross and histopathological investigations, Akabane virus, a member of the Orthobunyavirus genus in the family Bunyaviridae, causes congenital abnormalities and arthrogryposis with hydrocephalus or hydroencephaly in ruminants and could be the cause of this outbreak, although future studies must be performed to confirm the etiology of this outbreak. Moreover, other causes of hydrocephalus or cerebellar malformation, such as Schmallenberg virus, bluetongue virus and border disease virus and teratogenic plants that lead to arthrogryposis, have to be investigated. Also, the authorities should take prevention and control measurements to stop the replication of arthropod vectors.(AU)

O presente trabalho descreve os sinais clínicos, as lesões macroscópicas e os aspectos histológicos observados em 25 cordeiros acometidos em um surto de artrogripose congênita com hidrocéfalo ou hidrocefalia registrado no Iraque, governadoria Al-Muthama após a ocorrência de nascimentos prematuros e deformidades músculo-esqueléticas no período compreendido entre outubro de 2017 e maio de 2018. A hipoplasia músculo-esquelética foi observada nos membros dos cordeiros afetados, acompanhada de severa artrogripose e malformações cerebrais, grosseiras visíveis, além de mumificações fetais, nascimentos prematuros e morte de cordeiros. Os principais aspectos histopatológicos nas fibras musculares foram lesões degenerativas e ausências da estriação cruzada acompanhada de leve infiltração de neutrófilos e células mononucleares dos cordeiros severamente afetados. As meninges dos cordeiros afetados apresentaram fusão de membranas com áreas focais de espessamento fibroso e debris necróticos. O vírus Akabane, um membro do gênero Orthobunyavirus, da família Bunyaviridae, causa anormalidades congênitas e artrogripose com hidrocéfalo e hidrocefalia em ruminantes e poderá vir a ser a causa do presente surto. Os autores recomendam a realização de novos estudos com investigações epidemiológicas e isolamento do agente causal. Contudo, outras causas de hidrocéfalo ou malformações cerebrais como as determinadas pelo vírus Schmallenberg, vírus da língua azul e vírus da doença de border, bem como de plantas teratogênicas que determinam a artrogripose, também deverão ser investigadas. As autoridades sanitárias deverão tomar medidas de prevenção e controle para bloquear a replicação do vírus em artrópodes vetores.(AU)

Reproductive losses caused by the ingestion of Poincianella pyramidalis in sheep.

Malformations have been observed in sheep and goats in the Brazilian semiarid region in areas where Poincianella pyramidalis is dominant. The objective of this trial was to determine whether Poincianella pyramidalis causes reproductive changes in pregnant sheep. Sixteen non-pregnant sheep were mated with two rams. After confirmation of the pregnancy by ultrasonography on the 18th day after mating, pregnant sheep were randomly divided into four groups (#1, 2, 3, and 4), with four animals each. Sheep received roughage in an amount equivalent to 2% of their body weight, mixed with 0%, 10%, 20% and 40% of dried leaves of P. pyramidalis for groups 1, 2, 3 and 4, respectively. In Groups 1 and 2, all animals lambed normally. In Group 3 (20% P. pyramidalis in the roughage), one lamb was born with arthrogryposis and three sheep gave birth to premature weak lambs within 128, 132, and 133 days of gestation. In Group 4 (40% P. pyramidalis in the roughage), one sheep lambed a normal lamb; another ewe had embryonic mortality after seven days of plant consumption, and two aborted on days 103 and 144 of pregnancy. One of the aborted fetuses was normal and the other showed arthrogryposis and prognathism. These results suggest that P. pyramidalis causes embryonic deaths, abortions, and malformations in sheep. Grazing pregnant sheep in areas where this plant is dominant should be avoided, and roughage for confined pregnant females should not contain more than 10% P. pyramidalis.

Evidence of extensive renewed Schmallenberg virus circulation in Belgium during summer of 2016 - increase in arthrogryposis-hydranencephaly cases expected.

A seroprevalence study carried out between June and September 2016 in the Belgian sheep population showed a significant increase in overall (from 25% to 62%) and between-herd (from 60% to 96%) seroprevalence against Schmallenberg virus (SBV) during this period, indicating the most extensive recirculation of SBV since its original emergence in 2011. SBV recirculation was confirmed by the detection of SBV RNA-positive Culicoides obsoletus complex midges collected in the region of Antwerp in August 2016, reaching a minimum infection rate of 3%. The recirculation of SBV in the largely unprotected ruminant population during summer 2016 will likely cause an increase in the number of arthrogryposis-hydranencephaly cases in newborn ruminants during the coming months.

Congenital multiple arthrogryposis in bovine / Artrogripose congênita múltipla em bovino

This report describes an anal atresia, anatomical urethra alteration (slightly caudal to the udder), thickened joints, and changes in the pelvis in a newborn Holstein cow. Visualization of the final portion of the rectum was not possible by perineal access and laparotomy through the right flank was performed in order for abdominal exploration and colostomy attempt. During the surgical procedure visceral rupture and malformations incompatible with life were observed, so surgeons opted for euthanasia and necropsy. Alterations were confirmed in the genitourinary and gastrointestinal tract. The non-formation of the anus caused dilation of the distal portion of the rectum with fecal content retention, which was drained to the body of the uterus, with the presence of meconium. This amount of anatomical and clinical changes were diagnosed as congenital multiple arthrogryposis.(AU)

Este relato de caso descreve atresia anal, alteração anatômica da uretra (inserida caudalmente ao úbere), articulações espessadas e alterações na pelve em um neonato bovino da raça Holandesa. A visualização da porção final do reto não foi possível pelo acesso perineal, e laparotomia através do flanco direito foi feita para exploração abdominal e realização da colostomia. Durante o procedimento cirúrgico, foram observadas ruptura visceral e malformações incompatíveis com a vida, então os cirurgiões optaram pela eutanásia e necropsia. Alterações foram confirmadas nos tratos geniturinário e gastrointestinal. A não formação do ânus causou dilatação da porção distal do reto com retenção fecal, desviando ao corpo do útero, o qual possibilitou a entrada de mecônio nesse compartimento, além de outras alterações devido à ingestão e alteração no trânsito gastrointestinal. Essa quantidade de alterações anatômicas e clínicas foi diagnosticada como artrogripose congênita múltipla.(AU)

A CHRNB1 frameshift mutation is associated with familial arthrogryposis multiplex congenita in Red dairy cattle.

BACKGROUND: Bovine arthrogryposis multiplex congenita (AMC) is a syndromic term for a congenital condition characterized by multiple joint contractures. Rare inherited forms of bovine AMC have been reported in different breeds. For AMC in Angus cattle a causative genomic deletion encompassing the agrin (AGRN) gene, encoding an essential neural regulator that induces the aggregation of acetylcholine receptors (AChRs), is known. In 2015, three genetically related cases of generalized AMC affecting Red dairy calves were diagnosed in Denmark. RESULTS: The family history of three affected calves suggested an autosomal recessive inheritance. Single nucleotide polymorphism (SNP) genotyping showed a single genomic region of extended homozygosity of 21.5 Mb on chromosome 19. Linkage analysis revealed a maximal parametric LOD score of 1.8 at this region. By whole genome re-sequencing of the three cases, two private homozygous non-synonymous variants were detected in the critical interval. Both variants, located in the myosin phosphatase Rho interacting protein (MPRIP) and the cholinergic receptor nicotinic beta 1 subunit gene (CHRNB1), were perfectly associated with the AMC phenotype. Previously described CHRNB1 variants in humans lead to a congenital myasthenic syndrome with impaired neuromuscular transmission. The cattle variant represents a single base deletion in the first exon of CHRNB1 (c.55delG) introducing a premature stop codon (p.Ala19Profs47*) in the second exon, truncating 96 % of the protein. CONCLUSIONS: This study provides the first phenotypically and genetically characterized example of a bovine AMC phenotype that represents an inherited neuromuscular disorder corresponding to human congenital myasthenic syndrome. The identified CHRNB1 loss of function variant is predicted to have a deleterious effect on fetal AChR function, which could explain the lethal phenotype reported in this study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of CHRNB1 mutations and enables selection against this pathogenic variant in Red dairy cattle.

Congenital malformations and other reproductive losses in goats due to poisoning by Poincianella pyramidalis (Tul.) L.P. Queiroz (=Caesalpinia pyramidalis Tul.).

In the semiarid region of Brazil, in areas with vegetation composed mainly of Poincianella pyramidalis, several cases of congenital malformation and reproductive losses were observed in goats and sheep from 2012 to 2014. To determine the teratogenic effect of P. pyramidalis, two groups of eight goats each were used. Goats from Group 1 received fresh P. pyramidalis, harvested daily, as the only roughage during the whole breeding and pregnancy period. Goats in Group 2 (control) received Cynodon dactylon (tifton) hay free choice. Ultrasound examination for pregnancy diagnosis was performed every 28 days. Four goats from Group 1 were pregnant on day 28 but not on day 56, suggesting embryonic death or abortion. Another goat from Group 1 died at day 70 of pregnancy, and the fetuses exhibited micrognathia. The other three goats bore six kids, three of which showed bone malformations in the limbs, spine, ribs, sternum, and head, including arthrogryposis, scoliosis and micrognathia. One kid also showed hypoplasia of the left pulmonary lobes. In the control group, all goats bore a total of 13 kids and none of them exhibited malformations. These results demonstrated that P. pyramidalis causes congenital malformations and other reproductive losses in goats.

Genome-wide next-generation DNA and RNA sequencing reveals a mutation that perturbs splicing of the phosphatidylinositol glycan anchor biosynthesis class H gene (PIGH) and causes arthrogryposis in Belgian Blue cattle.

BACKGROUND: Cattle populations are characterized by regular outburst of genetic defects as a result of the extensive use of elite sires. The causative genes and mutations can nowadays be rapidly identified by means of genome-wide association studies combined with next generation DNA sequencing, provided that the causative mutations are conventional loss-of-function variants. We show in this work how the combined use of next generation DNA and RNA sequencing allows for the rapid identification of otherwise difficult to identify splice-site variants. RESULTS: We report the use of haplotype-based association mapping to identify a locus on bovine chromosome 10 that underlies autosomal recessive arthrogryposis in Belgian Blue Cattle. We identify 31 candidate mutations by resequencing the genome of four cases and 15 controls at ~10-fold depth. By analyzing RNA-Seq data from a carrier fetus, we observe skipping of the second exon of the PIGH gene, which we confirm by RT-PCR to be fully penetrant in tissues from affected calves. We identify - amongst the 31 candidate variants - a C-to-G transversion in the first intron of the PIGH gene (c211-10C > G) that is predicted to affect its acceptor splice-site. The resulting PIGH protein is likely to be non-functional as it lacks essential domains, and hence to cause arthrogryposis. CONCLUSIONS: This work illustrates how the growing arsenal of genome exploration tools continues to accelerate the identification of an even broader range of disease causing mutations, therefore improving the management and control of genetic defects in livestock.

[Pathologic-anatomical changes in newborn goats caused by an intrauterine Schmallenberg virus infection]. / Pathologisch-anatomische Veränderungen bei Ziegenlämmern, verursacht durch eine intrauterine Schmallenberg-Virus- Infektion.

A complex of various malformations in newborns was observed to an increased extent in sheep farms in the 2011/2012 lambing season. An intrauterine Schmallenberg virus (SBV) infection was identified as the cause of these malformations. To date, a detailed pathological description of the deformity complex has only been given for bovine and ovine newborns.The aim of this study was therefore to provide a description of pathologic-anatomical congenital malformations in goat kids caused by intrauterine SBV infection. To this end, pathologic-anatomical and molecular biological investigations by PCR were carried out on 37 goat kids and 457 lambs from 238 sheep and goat farms in order to carry out an interspecies comparison. Of the 37 goat kids dissected, it was possible to identify a SBV infection in twelve animals (32.4%) by RT-PCR. In nine animals (24.3%) displaying pathological-anatomical malformations SBV could not be detected by PCR. The following malformations were observed: athrogryposis, deformation of spinal column, torticollis, asymmetry of the skull, brachygnathia inferior, cerebellar hypoplasia, cerebellar aplasia and internal hydrocephalus. Arthogryposis was the most common malformation, both in animals with positive PCR results and those with negative PCR results. This study documents congenital malformations caused by an intrauterine SBV infection for the first time on a large number of newborn goats.

Modelling the continental-scale spread of Schmallenberg virus in Europe: approaches and challenges.

Following its emergence in northern Europe in 2011 Schmallenberg virus (SBV), a vector-borne disease transmitted by the bites of Culicoides midges, has spread across much of the continent. Here we develop simple models to describe the spread of SBV at a continental scale and, more specifically, within and between NUTS2 regions in Europe. The model for the transmission of SBV between regions suggests that vector dispersal is the principle mechanism for transmission, even at the continental scale. The within-region model indicates that there is substantial heterogeneity amongst regions in the force of infection for cattle and sheep farms. Moreover, there is considerable under-ascertainment of SBV-affected holdings, though the level of under-ascertainment varies between regions. We contrast the relatively simple approach adopted in this study with the more complex continental-scale micro-simulation models which have been developed for pandemic influenza and discuss the strengths, weaknesses and data requirements of both approaches.

Diseases of the tendons and tendon sheaths.

Contracted flexor tendon leading to flexural deformity is a common congenital defect in cattle. Arthrogryposis is a congenital syndrome of persistent joint contracture that occurs frequently in Europe as a consequence of Schmallenberg virus infection of the dam. Spastic paresis has a hereditary component, and affected cattle should not be used for breeding purposes. The most common tendon avulsion involves the deep digital flexor tendon. Tendon disruptions may be successfully managed by tenorrhaphy and external coaptation or by external coaptation alone. Medical management alone is unlikely to be effective for purulent tenosynovitis.

Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil / Hereditary diseases and congenital defects diagnosed in water buffalo (Bubalus bubalis) in Brazil

A review on hereditary diseases and/or congenital defects diagnosed in water buffaloes in Brazil is performed. The epidemiological, clinical and pathological aspects of each disease or group of diseases are briefly described. Hereditary diseases include acantholytic mechanobullous dermatosis, arthrogryposis, myotonia, hydranencephaly, chondrodysplasia, and albinism. Congenital defects of unknown cause include megaesophagus, heart defects (patent ductus arteriosus), dermatosparaxia, and different defects of the reproductive system. The breeds most affected by genetic diseases are those from Asian Continent (Murrah and Jafarabadi), probably as a result of inbreeding in Brazilian herds due the prohibition of importation of breeding buffalo from that continent. The diagnosis of two hereditary diseases, arthrogryposis and myotonia, in Rio Grande do Sul (southern Brazil) and Pará (nothern Brazil) suggests that the undesirable genes are widespread in the buffalo population. The identification of these genes by molecular techniques associated with the buffalo breeding with correct sanitary, zootechnical, and reproductive control practices can decrease the negative effects of genetic diseases in the Brazilian buffalo herd.

É realizada uma revisão sobre as doenças hereditárias e/ou defeitos congênitos diagnosticados em búfalos no Brasil. São descritos brevemente os aspectos epidemiológicos, clínicos e patológicos de enfermidades hereditárias ou provavelmente hereditárias já observadas no Brasil, como dermatose mecanobolhosa, artrogripose, miotomia, hidranencefalia, condrodisplasia e albinismo; e dos defeitos congênitos que não tem uma causa ainda comprovada como megaesôfago, defeitos cardíacos (persistência do ducto arterioso), dermatosparaxia, defeitos no sistema reprodutivo e outros defeitos. Observou-se que as raças mais afetadas por enfermidades de natureza genética são as que têm origem no Continente Asiático (Murrah e Jafarabadi), provavelmente em consequência da consanguinidade existente nos rebanhos devido a proibição da importação de reprodutores, sêmen e embriões daquele continente. O diagnóstico de duas dessas doenças, artrogripose e miotomia hereditária no Rio Grande do Sul e no Pará, demonstra que os genes indesejáveis estão disseminados na população de búfalos no país e que a identificação desses genes por meio de técnicas moleculares associada à criação desta espécie com maior controle sanitário, reprodutivo e zootécnico pode minimizar os prejuízos decorrentes dessas enfermidades à bubalinocultura.

Perosomus elumbis in a puppy.

A 2-day-old poodle puppy was seen to have hypoplastic and arthrogrypotic hindlimbs and no tail. Palpation revealed an absence of lumbar and sacral vertebrae. At necropsy examination, the colon had a blind ending at the umbilical area, there were no urinary system organs, the spinal cord ended at the thoracic level and no genital system organs were found except for a structure similar to a rudimentary penis. The pelvis was abnormal with no articulation with the spine. This congenital anomaly was consistent with perosomus elumbis, a rare condition of unknown aetiology with few reported cases.

Nesidioblastosis in a simmental calf.

A 2-day-old Simmental calf with arthrogryposis and astasia was subjected to necropsy examination. The calf was normoglycaemic and normoinsulinaemic. Microscopically, pancreatic tissue was hyperplastic with an irregular lobular arrangement of pancreatic islets. Newly-formed islet cells budded from intralobular or intercalated ducts (so-called ductulo-insular complexes) and there were prominent blood vessels with telangiectatic features surrounded by rows of cuboidal-columnar islet cells. The newly-formed islets expressed insulin antigen immunohistochemically. The lesion was diagnosed as nesidioblastosis, an uncommon abnormality previously associated with the double muscling trait in cattle.

Pedigree analysis of Czech Holstein calves with schistosoma reflexum.

BACKGROUND: Schistosoma reflexum (SR) is congenital syndrome briefly characterized by visceral eventration, severe dorsoflexion and ankylosis of the spine and arthrogryposis. A genetic etiology has been proposed, but conclusive evidence has not yet been provided. METHODS: Pedigree analysis was carried out in 29 cases of SR in Czech Holsteins and Holstein crosses. Genetic relationship was evaluated and inbreeding coefficients calculated. Pedigrees of 15 Czech Holsteins fathering non-SR affected calves were used for comparison. RESULTS: Twenty-one cases occurred in one pedigree founded by three sires while three SR calves occurred in another pedigree with a common grandfather. The sex ratio between affected males and females was 11:6. Affected calves shared common ancestors different from those shared by the unaffected calves. The inbreeding coefficient in the SR affected calves was not increased compared to unaffected calves. CONCLUSIONS: The findings are consistent with SR being inherited autosomal recessively. Further studies are however needed to confirm this and therefore a breeding trial is recommended where a suspected heterozygous sire is mated to closely related females.

Porcine arthrogryposis multiplex congenita (AMC): new diagnostic test and narrowed candidate region.

In the Swiss Large White pig population a genetically caused arthrogryposis multiplex congenita (AMC) variant was identified. The disease is autosomal recessively inherited and is a fatal defect. Affected piglets are of normal size, but show malformed and permanently contracted joints in their legs. Often the spinal cord is curved and the lower jaw is shortened. Originally, AMC was mapped to a 5 Mb region on pig chromosome 5 (SSC5) between microsatellite markers SW152 and SW904. In order to detect unaffected carriers a diagnostic test using markers within the candidate region was developed. However, two independent recombination events occurred in a diseased and in a healthy piglet. Therefore, we selected 24 consecutive markers (3 microsatellites, 19 SNPs and 2 indels) in the candidate region, and determined the haplotypes in the two pedigrees with the recombinations. The parents and five offspring were investigated. In consequence, we were able to narrow down the candidate region and map AMC between SNPs ALGA0032767 and DRGA0006010 on SSC5 which span around 2.32 Mb. The candidate region shares homology to human chromosome 12. However, we are still lacking good candidate genes. A PCR-RFLP was developed and is used as an improved genetic test for AMC.

SNP-based association mapping of Arachnomelia in Fleckvieh cattle.

Bovine arachnomelia is an inherited congenital disorder with malformation mainly of the limbs, the vertebral column and the skull, following a monogenic autosomal recessive heredity. Despite almost identical pathological findings, arachnomelia has previously been mapped to bovine chromosome 23 and 5 in Fleckvieh and Braunvieh respectively. Therefore, this disorder may be an example of locus heterogeneity in cattle. This study aimed to refine the candidate region to allow positional cloning and sequence analyses of candidate genes in Fleckvieh cattle. For that purpose, a case-control association mapping design was set up with a case group of 16 pre-selected affected individuals and a control group of 50 unrelated animals. The subset of affected animals was selected from a total of 129 pathologically confirmed cases due to the occurrence of recombination(s) within a 14.5 cM candidate interval previously mapped to chromosome 23. Six linked microsatellites currently used for indirect gene testing in Fleckvieh were analysed for this purpose. In all selected cases, a genome-wide scan using 44 473 informative SNPs revealed shared segments of homozygosity at 15 adjacent SNPs on chromosome 23. Additional haplotype analysis of 37 carrier bulls confirmed the localization of the arachnomelia locus to a region of 927 kb (13.622-14.549 Mb) containing molybdenum cofactor biosynthesis protein 1 gene, the most likely candidate gene for arachnomelia in Fleckvieh. The number of recombinant haplotypes observed in cases was more than doubled compared with the number of expected recombinations. This remarkably increased mapping resolution and thus illustrates the benefit of pre-selection in association studies.

Malformações congênitas em ruminantes no semiárido do nordeste Brasileiro / Congenital malformations in ruminants in the semiarid of the Brazilian northeast

Congenital malformations caused by the ingestion of Mimosa tenuiflora have been reported in ruminants in the semiarid of the Brazilian Northeast. This paper reports malformations diagnosed in ruminants, from 2000 to 2008, by the Veterinary Pathology Laboratory of the Federal University of Campina Grande, Patos, PB, in municipalities of the states of Paraíba, Pernambuco and Rio Grande do Norte. During the period, 47 (3.48 percent) out of 1.347 ascensions were reported as malformations. Based in the type of malformation and in the origin of the animals, malformations were divided in: 1) caused by the ingestion of M. tenuiflora, and 2) sporadic malformations of unknown causes. In sheep, 21 out of 418 ascensions were malformations, being 18 (4.3 percent) of malformations caused by M. tenuiflora and 3 (0.71 percent) of sporadic malformations. In cattle, 14 out of 434 ascensions were malformations, from these 8 (1.84 percent) were caused by M. tenuiflora and 6 (1.38 percent) were sporadic malformations. In goats, 12 out of 495 ascensions were malformations, being 9 (1.81 percent) malformations related with the ingestion of M. tenuiflora and 3 (0.6 percent) sporadic malformations. More frequent malformations caused by M. tenuiflora were arthrogryposis, micrognatia, palatoschisis, microphtalmia and unilateral or bilateral hypoplasia or aplasia of the incisive bones. Sporadic malformations were acephaly and hermaphrodite, dicephaly and malformations of mesenteric vessel in sheep; atresia ani in three goats; and hydranencephaly, atresia ani, ribs malformation with eventracion, cerebellar hypoplasia with hydrocephalus, pulmonary choristoma and meningocele, and siamese twins in cattle. A case of cerebellar hypoplasia with hydrocephalus was negative on immunohistochemistry to bovine viral diarrhea virus. Malformations caused by M. tenuiflora occurred during the whole year...

Malformações congênitas causadas pela ingestão de Mimosa tenuiflora têm sido observadas em ruminantes no semiárido do Nordeste Brasileiro. Neste trabalho foram estudadas as malformações congênitas em ruminantes diagnosticadas entre 2000 e 2008, em municípios da Paraíba, Pernambuco e Rio Grande do Norte. Durante o período foram recebidos 1.347 materiais de ruminantes para diagnóstico, desses 47 (3,48 por cento) foram dignosticados como malformações congênitas. Com base no tipo de malformação e na procedência do animal as malformações foram divididas em: 1) causadas pelo consumo de M. tenuiflora; e 2) malformações esporádicas, sem causa conhecida. De 418 materiais de ovinos, 21 corresponderam a malformações, sendo 18 (4,3 por cento do total de materiais) de malformações causadas por M. tenuiflora e 3 (0,71 por cento) de malformações esporádicas. De 434 materiais de bovinos, 14 foram diagnosticados como malformações, sendo 8 (1,84 por cento) causadas por M. tenuiflora e 6 (1,38 por cento) malformações esporádicas. De 495 materiais de caprinos, 12 apresentaram malformações, sendo 9 (1,81 por cento) causadas pela ingestão de M. tenuiflora e 3 (0,6 por cento) malformações esporádicas. As principais malformações causadas por M. tenuiflora foram artrogripose, micrognatia, palatosquise, microftalmia e hipoplasia ou aplasia unilateral ou bilateral dos ossos incisivos. As malformações esporádicas incluiram: acefalia e hermafroditismo, dicefalia e malformações de vasos intestinais em ovinos; atresia anal em três caprinos; e hidranencefalia, atresia anal, malformações de costelas com eventração, hipoplasia cerebelar e hidrocefalia, coristoma pulmonar e meningocele, e gêmeos siameses em bovinos. O caso de hipoplasia cerebelar com hidrocefalia foi negativo pela imuno-histoquímica para o vírus da diarreia viral bovina. Malformações congênitas causadas por M. tenuiflora ocorreram durante todo o ano...