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