OMIA 002556-9913 : Double-outlet right ventricle in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Dominant

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Species-specific symbol: DORV

Molecular basis: By whole-genome sequencing of a trio of affected offspring, sire and dam, Jacinto et al. (2022) "identified two heterozygous private protein-changing variants present exclusively in the genome of the affected calf and absent in both parental genomes as well as in 5365 controls . . . . Only one of these variants was in a putative candidate gene for the observed phenotype. This heterozygous variant at chr10:84751870G>A (NM_001101951.1: c.416C>T) represents a missense variant in a splicing region located in exon 7 of the NUMB endocytic adaptor protein (NUMB) gene . . . . The guanine to arginine substitution affects an evolutionary highly conserved amino acid (NP_001095421.1: p.Thr139Met) in the phosphotyrosine interaction domain (PTB/PID) and was predicted to be deleterious using four different tools (provean, −2.599; polyphen, 2: 56%; sift, 79%; and mapp, 57%). Sanger sequencing confirmed the presence of the heterozygous NUMB variant in the affected calf and its sire, which clearly carried the mutant allele at a low level in comparison with the wild type allele, representing a germinal mosaic".

Clinical features: Caivano et al. (2021): "Clinical examination showed tachycardia, tachypnea, jugular pulses, cyanotic mucous membranes and a right apical systolic murmur. Transthoracic echocardiography revealed severe dilation of the right-sided cardiac chambers with a markedly hypoplastic left ventricle. Both aorta and pulmonary artery leaving the right ventricle in parallel alignment with the tricuspid valve were suggestive of a dual-outlet right ventricle. Interventricular and interatrial septal defects were also visualized. Post-mortem examination confirmed the echocardiographic findings."

Breeds: Angus, Brangus, Chianina, Friesian, Hereford, Holstein, Holstein-Friesian.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NUMB numb homolog (Drosophila) Bos taurus 10 NC_037337.1 (84856857..84739669) NUMB Homologene, Ensembl, NCBI gene

Variants

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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1468 Chianina Double-outlet right ventricle NUMB missense Naturally occurring variant ARS-UCD1.2 10 g.84751870G>A c.416C>T p.(T139M) NM_001101951.1; NP_001095421.1 2022 35748177

References


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.
2022 Jacinto, J.G.P., Häfliger, I.M., Caivano, D., Drögemüller, C. :
A germline de novo variant in NUMB associated with a double-outlet right ventricle in Chianina cattle. Anim Genet :, 2022. Pubmed reference: 35748177. DOI: 10.1111/age.13236.
2021 Caivano, D., Marchesi, M.C., Boni, P., Venanzi, N., Angeli, G., Porciello, F., Lepri, E. :
Double-Outlet Right Ventricle in a Chianina Calf. Animals (Basel) 11:, 2021. Pubmed reference: 33513881. DOI: 10.3390/ani11020318.
2020 McManus, A., Moloney, T., Kelly, P., Rowan, C., Skelly, C., McAloon, C.I. :
An unusual presentation of developmental anomalies of the cardiovascular system including tetralogy of fallot, double outlet right ventricle, patent foramen ovale and persistent right aortic arch in a Friesian calf. BMC Vet Res 16:224, 2020. Pubmed reference: 32605568. DOI: 10.1186/s12917-020-02439-8.
2017 Newhard, D.K., Jung, S.W., Winter, R.L., Kuca, T., Bayne, J., Passler, T. :
Double-outlet right ventricle with an intact interventricular septum and concurrent hypoplastic left ventricle in a calf. J Vet Cardiol 19:205-210, 2017. Pubmed reference: 28111139. DOI: 10.1016/j.jvc.2016.11.002.
Wiedemann, N., Hildebrandt, N., Henrich, M., Henrich, E., Schneider, M. :
[Cyanosis in a calf with a double outlet right ventricle]. Tierarztl Prax Ausg G Grosstiere Nutztiere 45:, 2017. Pubmed reference: 28905979. DOI: 10.15653/TPG-161077.
2009 Nourani, H., Parchami, A., Bonyadian, M. :
Double outlet right ventricle in a calf Comparative Clinical Pathology 18:187-189, 2009. DOI: 10.1007/s00580-008-0771-x.
2005 Prosek, R., Oyama, M.A., Church, W.M., Nagy, D.W., Sisson, D.D. :
Double-outlet right ventricle in an Angus calf. J Vet Intern Med 19:262-7, 2005. Pubmed reference: 15822574. DOI: 10.1892/0891-6640(2005)19<262:drviaa>2.0.co;2.
1985 Wilson, R.B., Cave, J.S., Horn, J.B., Kasselberg, A.G. :
Double outlet right ventricle in a calf. Can J Comp Med 49:115-6, 1985. Pubmed reference: 3986675.

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  • Created by Frank Nicholas on 01 Jul 2022
  • Changed by Frank Nicholas on 01 Jul 2022