Heritable Congenital Defects in Cattle

Whitlock, Brian K; Coffman, Elizabeth A.

doi:10.1002/9781118833971.ch66

Cited by 10 publications

(14 citation statements)

References 64 publications

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“…The gross lesions of both calves were consistent with previously reported cases of PHA in cattle [ 3 – 6 ]. The pedigree of the established Cika cattle family was compatible with monogenic autosomal recessive inheritance similar to other reported forms of familial PHA in cattle (OMIA 001562–9913) and HF in sheep (OMIA 000493–9940).…”

Section: Discussionsupporting

confidence: 90%

“…Pulmonary hypoplasia and anasarca (PHA) syndrome is a lethal genetic defect of cattle that is characterised by HF with extreme subcutaneous oedema (anasarca) and undeveloped or poorly formed lungs (pulmonary hypoplasia) [ 3 – 6 ]. The rarely occurring bovine diseases HF (OMIA 000493–9913) and PHA (OMIA 001562–9913) were both reported to be recessively inherited in Australian Dexter, Belted Galloway, Maine-Anjou, and Shorthorn cattle [ 3 – 6 ]. Lesions similar to those found in PHA affected cattle have also been described in a sheep (OMIA 000493–9940).…”

Section: Introductionmentioning

confidence: 99%

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Pulmonary hypoplasia and anasarca syndrome in Cika cattle

et al. 2015

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BackgroundHydrops foetalis is defined as excessive fluid accumulation within the foetal extravascular compartments and body cavities. It has been described in human and veterinary medicine, but despite several descriptive studies its aetiology is still not fully clarified. Pulmonary hypoplasia and anasarca (PHA) syndrome is a rare congenital abnormality in cattle that is characterised by hydrops foetalis including extreme subcutaneous oedema (anasarca) and undeveloped or poorly formed lungs (pulmonary hypoplasia). Until now, sporadic cases of PHA were reported in cattle breeds like Australian Dexter, Belted Galloway, Maine-Anjou, and Shorthorn. This report describes the first known cases of PHA syndrome in Slovenian Cika cattle.Case presentationA 13-year-old cow aborted a male calf in the seventh month of pregnancy, while a male calf was delivered by caesarean section on the due date from a 14-year-old cow. The pedigree analysis showed that the calves were sired by the same bull, the dams were paternal half-sisters and the second calf was the product of a dam-son mating. Gross lesions were similar in both cases and characterized by severe anasarca, hydrothorax, hydropericardium, ascites, hypoplastic lungs, absence of lymph nodes, and an enlarged heart. The first calf was also athymic. Histopathology of the second affected calf confirmed severe oedema of the subcutis and interstitium of the organs, and pulmonary hypoplasia. The lymph vessels in the subcutis and other organs were severely dilated. Histopathology of the second calf revealed also lack of bronchus associated lymphoid tissue and adrenal gland hypoplasia.ConclusionsThe findings were consistent with known forms of the bovine PHA syndrome. This is the first report of the PHA syndrome occurring in the local endangered breed of Cika cattle. Observed inbreeding practice supports that this lethal defect most likely follows an autosomal recessive mode of inheritance. In the light of the disease phenotype it is assumed that a mutation causing an impaired development of lymph vessels is responsible for the hydrops foetalis associated malformations in bovine PHA.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Pulmonary hypoplasia and anasarca syndrome in Cika cattle

et al. 2015

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“…The likely cause of this is that the haplotypes we examined did not always indicate the presence of the defective allele. For instance, the mutation causing Neuropathic Hydrocephalus, originated in bull G A R Precision 1680 born in 1990 [ 32 ]. Consequently, there are both wild-type and deleterious versions of the BovineSNP50 haplotype on which the mutation arose segregating in the genotyped population.…”

Section: Discussionmentioning

confidence: 99%

Candidate lethal haplotypes and causal mutations in Angus cattle

et al. 2017

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BackgroundIf unmanaged, high rates of inbreeding in livestock populations adversely impact their reproductive fitness. In beef cattle, historical selection strategies have increased the frequency of several segregating fatal autosomal recessive polymorphisms. Selective breeding has also decreased the extent of haplotypic diversity genome-wide. By identifying haplotypes for which homozygotes are not observed but would be expected based on their frequency, candidates for developmentally lethal recessive loci can be localized. This analysis comes without the need for observation of the loss-associated phenotype (e.g., failure to implant, first trimester abortion, deformity at birth). In this study, haplotypes were estimated for 3961 registered Angus individuals using 52,545 SNP loci using findhap v2, which exploited the complex pedigree among the individuals in this population.ResultsSeven loci were detected to possess haplotypes that were not observed in homozygous form despite a sufficiently high frequency and pedigree-based expectation of homozygote occurrence. These haplotypes were identified as candidates for harboring autosomal recessive lethal alleles. Of the genotyped individuals, 109 were resequenced to an average 27X depth of coverage to identify putative loss-of-function alleles genome-wide and had variants called using a custom in-house developed pipeline. For the candidate lethal-harboring haplotypes present in these bulls, sequence-called genotypes were used to identify concordant variants. In addition, whole-genome sequence imputation of variants was performed into the set of 3961 genotyped animals using the 109 resequenced animals to identify candidate lethal recessive variants at the seven loci. Following the imputation, no variants were identified that were fully concordant with the marker-based diplotypes.ConclusionsSelective breeding programs could utilize the predicted lethal haplotypes associated with SNP genotypes. Sequencing and other methods for identifying the causal variants underlying these haplotypes can allow for more efficient methods of management such as gene editing. These two methods in total will reduce the negative impacts of inbreeding on fertility and maximize overall genetic gains.

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“…In cattle, a recessively inherited syndrome of arthrogryposis and palatoschisis in Charolais and Herford breeds , and a lethal recessive autosomal gene causing arthrogryposis multiplex in Angus breed (Whitlock 2010) have been described. In the current report, the dam had experienced two pregnancies, culminating in birth of two normal calves, prior to giving birth to this case with facial skeletal deformity.…”

Section: Discussionmentioning

confidence: 98%

“…Although a number of craniofacial skeletal deformity cases have been reported in cattle, the incidence of these defects has been estimated to be very rare (Greene et al 1974;Hámori 1983;Leipold et al 1983;Szabo 1989;Noden and De Lahunta 1985;Moritomo et al 1999 The etiology of facial defects could be genotype, environment, or a combination of these two factors. A recessively inherited syndrome of arthrogryposis and palatoschisis in Charolais and Herford cattle , and also arthrogryposis multiplex as a lethal autosomal recessive genetic defect in Angus cattle (Whitlock 2010) have been reported. In addition, maternal nutritional deficiencies, drug or chemical exposure, ingestion of toxic agents such as lupines, mechanical interferences with the fetus, and some viral infections during the early stages of pregnancy have also been implicated as the causative reasons for facial anomalies (Shupe et al 1968;Gelberg 2007).…”

Section: Introductionmentioning

confidence: 98%

Bilateral cleft lip, jaw, and palate in a female Holstein calf

et al. 2012

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A female Holstein calf with a body weight of 35 kg was born alive after a normal pregnancy period in September 2010 at a commercial dairy farm in Karaj, Iran. At birth, the cleft lip, jaw, and palate were obvious. The cleft was approximately 8.4 cm in length and 7.2 cm in width at the widest part. Pulse rate, respiration rate, and body temperature of the calf were 112/min, 42/min, and 38°C, respectively. Respiration was abdominal and irregular. Necropsy revealed that there was no more congenital abnormality except for the facial defect. Radiologic examination revealed that the cleft extended from the median lip to the rostral part of the palate, which made the dorsal nose and the palate separate. Based on examination of the craniofacial skeletal in detail following maceration, it was revealed that all the facial bones were developed and the defect was just limited to cleft lip, jaw, and palate, which was resulted from failure of closure in facial processes. Accordingly, abnormality was diagnosed as bilateral cleft lip, jaw, and palate.

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Heritable Congenital Defects in Cattle

Cited by 10 publications

References 64 publications

Pulmonary hypoplasia and anasarca syndrome in Cika cattle

Pulmonary hypoplasia and anasarca syndrome in Cika cattle

Candidate lethal haplotypes and causal mutations in Angus cattle

Bilateral cleft lip, jaw, and palate in a female Holstein calf

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