OMIA 001562-9913 : Pulmonary hypoplasia with anasarca in Bos taurus
Häfliger et al. (2020; PMID 33006153) reported an aborted Holstein foetus affected with PHA, for which whole-genome sequencing revealed no likely causal variant, but for which comparison of "read depth of 500 kb windows across" the genome revealed an extra chromosome 20, i.e. trisomy 20Molecular basis: Häfliger et al. (2020; PMID 32069517): "Whole‐genome sequencing of one case, variant filtering against controls and genotyping of a larger cohort of Cika cattle led to the detection of a likely pathogenic protein‐changing variant perfectly associated with the disease: a missense variant on chromosome 6 in ADAMTS3 (NM_001192797.1: c.1222C>T), which affects an evolutionary conserved residue (NP_001179726.1: p.(His408Tyr))" Clinical features: Häfliger et al. (2020; PMID 32069517): "The affected fetuses show diffuse severe subcutaneous edema, accumulation of fluids in the body cavities (anasarca) and a dysplasia of the lymphatic system in addition to pulmonary hypoplasia or aplasia". Genetic testing: Since 2006, a DNA test for this disorder in Maine Anjou and some other breeds (developed by Dr Jon Beever, Dept of Animal Sciences, University of Illinois) has been available.
Häfliger et al. (2020; PMID 32069517) reported that "All three PHA‐affected cases were tested homozygous wt for the variants of the commercial DNA test for bovine PHA", leading them to conclude that "The absence of the unreported but commercially tested variants for bovine PHA indicates that the PHA‐affected calves presented here are unrelated to those that led to the commercial gene test development."Breeds: Belted Galloway, Danish Holstein, Dexter, Hereford, Maine Anjou, Shorthorn, Slovenian Cika. Associated gene:
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|ADAMTS3||ADAM metallopeptidase with thrombospondin type 1 motif 3||Bos taurus||6||NC_037333.1 (87706149..87425830)||ADAMTS3||Homologene, Ensembl, NCBI gene|
By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|Slovenian Cika||Pulmonary hypoplasia and anasarca syndrome||ADAMTS3||missense||ARS-UCD1.2||6||g.87462016G>A||c.1222C>T||p.(H408T)||NM_001192797.1: c.1222C>T; NP_001179726.1: p.(His408Tyr) (Häfliger et al., 2020)||2020||32069517|
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
|2020||Häfliger, I.M., Wiedemar, N., Švara, T., Starič, J., Cociancich, V., Šest, K., Gombač, M., Paller, T., Agerholm, J.S., Drögemüller, C. :|
|Identification of small and large genomic candidate variants in bovine pulmonary hypoplasia and anasarca syndrome. Anim Genet :, 2020. Pubmed reference: 32069517. DOI: 10.1111/age.12923.|
|Häfliger, I.M., Agerholm, J.S., Drögemüller, C. :|
|Constitutional trisomy 20 in an aborted Holstein fetus with pulmonary hypoplasia and anasarca syndrome. Anim Genet :, 2020. Pubmed reference: 33006153. DOI: 10.1111/age.13008.|
|2016||Švara, T., Cociancich, V., Šest, K., Gombač, M., Paller, T., Starič, J., Drögemüller, C. :|
|Pulmonary hypoplasia and anasarca syndrome in Cika cattle. Acta Vet Scand 58:36, 2016. Pubmed reference: 27267454. DOI: 10.1186/s13028-016-0220-9.|
|2011||Agerholm, J.S., Arnbjerg, J. :|
|Pulmonary hypoplasia and anasarca syndrome in a belted Galloway calf Veterinary Record 168:190 only, 2011. Pubmed reference: 21493533. DOI: 10.1136/vr.c6354.|
|2006||Windsor, PA., Cavanagh, JA., Tammen, I. :|
|Hydrops fetalis associated with pulmonary hypoplasia in Dexter calves. Aust Vet J 84:278-81, 2006. Pubmed reference: 16911227. DOI: 10.1111/j.1751-0813.2006.00018.x.|
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