Non-syndromic familial congenital anorectal malformations

Gene: EBF2

Red List (low evidence)

Kim et al 2018 (PMID: 29704291) report 6 individuals with imperforate anus from 3 generations of one Korean family. A missense mutation (p.Ala72Val)) in EBF2 was found by whole exome sequencing. The variant segregates with the phenotype in the family, is rare (1/120,788 Europeans, ExAC), is evolutionarily highly conserved, and is predicted to be functionally damaging. No functional studies were performed.

Created: 21 Aug 2018, 2:58 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
imperforate anus

Publications

• 29704291