OMIA:002532-9913 : Hernia, abdominal, TWIST1-related in Bos taurus (taurine cattle)
Categories: Growth / size / body region phene
Links to MONDO diseases: No links.
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".
Have human generated variants been created, e.g. through genetic engineering and gene editing
Charolais (Cattle) (VBO_0000177).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|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|
Cite this entry
|2022||Grohs, C., Boussaha, M., Hozé, C., Capitan, A. :|
|Rare cases of hernia of the linea alba among TWIST1 haploinsufficient Charolais cattle. Anim Genet 53:239-241, 2022. Pubmed reference: 35187669. DOI: 10.1111/age.13179.|
- Created by Frank Nicholas on 24 Feb 2022
- Changed by Frank Nicholas on 24 Feb 2022