OMIA:002759-9913 : Brachygnathia, WNT10B-related in Bos taurus (taurine cattle) |
Categories: Skeleton phene (incl. short stature & teeth) , Craniofacial phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 601906 (gene) , 617073 (trait)
Mendelian trait/disorder: yes
Mode of inheritance: Probably autosomal recessive
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: brachygnathia inferior; shortening of the mandible
Mapping: Widmer et al. (2023): "hypothesized that either a monogenic recessive or a complex mode of inheritance was underlying [brachygnathia inferior in Brown Swiss cattle]. Through a genome-wide association study of 145 cases and 509 controls with imputed 624k SNP data, we identified a 4.5 Mb genomic region on bovine chromosome 5 significantly associated with this anomaly. This locus was fine-mapped using whole-genome sequencing data. A run of homozygosity analysis revealed a critical interval of 430 kb."
Molecular basis: Widmer et al. (2023): "A breed specific frameshift duplication in WNT10B (rs525007739; c.910dupC; p.Arg304ProfsTer14) ... was found to be associated with a 21.5-fold increased risk of brachygnathia inferior in homozygous [Brwon Swiss] carriers."
Breed:
Brown Swiss (Cattle) (VBO_0000166).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| WNT10B | wingless-type MMTV integration site family member 10B | Bos taurus | 5 | NC_037332.1 (30841143..30847502) | WNT10B | Homologene, Ensembl , NCBI gene |
Variants
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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 | Year Published | PubMed ID(s) | Acknowledgements |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1618 | Brown Swiss (Cattle) | Brachygnathia | WNT10B | duplication | Naturally occurring variant | ARS-UCD1.3 | 5 | NC_037332.1:g.30846510dup | XM_010805029.3:c.910dup | XP_010803331.1:p.R304Pfs*14 | XM_010805029.3; XP_010803331.1; published as g.30,846,510dupC; c.910dupC; variant is associated with increased risk of brachygnathia | rs525007739 | 2023 | 37641348 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002759-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2023 | Widmer, S., Seefried, F.R., Häfliger, I.M., Signer-Hasler, H., Flury, C., Drögemüller, C. : |
| WNT10B: A locus increasing risk of brachygnathia inferior in Brown Swiss cattle. J Dairy Sci 106:8969-8978, 2023. Pubmed reference: 37641348. DOI: 10.3168/jds.2023-23315. |
Edit History
- Created by Imke Tammen2 on 30 Aug 2023