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OMIA:002759-9913 : Brachygnathia, WNT10B-related in Bos taurus (taurine cattle)

Categories: Skeleton phene (incl. short stature & teeth) , Craniofacial phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601906 (gene) , 617073 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Considered a defect: 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."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breed: Brown Swiss (Cattle) (VBO_0000166).
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
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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1618 Brown Swiss (Cattle) Brachygnathia WNT10B duplication Naturally occurring variant ARS-UCD1.2 5 g.30846510dup c.910dup 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
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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 , 2023. Pubmed reference: 37641348. DOI: 10.3168/jds.2023-23315.

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  • Created by Imke Tammen2 on 30 Aug 2023