OMIA:002556-9913 : Double-outlet right ventricle in Bos taurus (taurine cattle) |
In other species: goat
Categories: Cardiovascular system phene
Links to MONDO diseases: No links.
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".
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
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 (Cattle) (VBO_0000104),
Brangus (Cattle) (VBO_0000161),
Chianina (Cattle) (VBO_0000178),
Hereford (Cattle) (VBO_0000232),
Holstein (black and white) (Cattle) (VBO_0000237),
Holstein Friesian (Cattle) (VBO_0000239).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
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.
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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 (Cattle) | 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 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:002556-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
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 53:713-714, 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. |
Edit History
- Created by Frank Nicholas on 01 Jul 2022
- Changed by Frank Nicholas on 01 Jul 2022