Non-syndromic familial congenital anorectal malformations

Gene: TP63

This gene was added as a candidate gene to the panel due to a report in Su et al 2013 (PMID: 23736768) describing anorectal malformation associated with a mutation in the P63 gene in a Chinese family with split hand-foot malformation. Affected individuals were found to have an Arg227Gln P63 gene mutation. However the same variant is in Clinvar https://www.ncbi.nlm.nih.gov/clinvar/variation/30348/ associated with Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 so not clear that the variant is associated with anorectal malformation rather than ectrodactyly.

Created: 4 Aug 2018, 10:48 p.m.