OMIA 002532-9913 : Hernia, abdominal, TWIST1-related in Bos taurus |
Mendelian trait/disorder:
yes
Mode of inheritance:
Autosomal dominant with incomplete penetrance
Considered a defect:
yes
Key variant known:
yes
Year key variant first reported:
2022
Species-specific description:
Grohs et al. (2022): "this study expands the clinical spectrum of TWIST1 haploinsufficiency in Mammals by reporting the first evidence (to our knowledge) of abdominal hernia in a small proportion of cattle heterozygous for a natural frameshift variant"
Inheritance:
Grohs et al. (2022): "Pedigree analysis suggested an autosomal dominant inheritance with incomplete penetrance and revealed that all cases descended from one founder of the French polled Charolais population born in 1988 (DEDAIN: CHAFRAM009588100135".
Breed:
Charolais.
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
TWIST1 | twist family bHLH transcription factor 1 | Bos taurus | 4 | NC_037331.1 (27819874..27817880) | TWIST1 | Homologene, Ensembl, NCBI gene |
Reference
2022 | Grohs, C., Boussaha, M., Hozé, C., Capitan, A. : | |
Rare cases of hernia of the linea alba among TWIST1 haploinsufficient Charolais cattle. Anim Genet :, 2022. Pubmed reference: 35187669. DOI: 10.1111/age.13179. |
Edit History
- Created by Frank Nicholas on 24 Feb 2022
- Changed by Frank Nicholas on 24 Feb 2022