Non-syndromic familial congenital anorectal malformations

Gene: HOXD13

Garcia-Barceló et al 2008 (PMID:19006232) report a heterozygous ‘‘denovo’’ mutation consisting of a 21base-pair deletion (c.163_183del) in the HOXD13 gene in a VACTERL patient presenting with tetralogy of Fallot (heart defect), vesicoureteric reflux, fusion of the distal inter-phalangealjoints of the 4th and 5th toes and anal atresia. Parents and child were screened for variants in SHH, GLI3, and HOXD13. The mutation resulted in the removal of 7 alanines, No polyalanine contraction was found in 192 chromosomes of unrelated andethnically matched healthy individuals. There is the possibility that the HOXD13 mutation identified is only responsible for the digital phenotype and that a second mutation elsewhere in the genome exists that may explain the complexity of the phenotype.

Created: 7 Oct 2018, 11:50 a.m.

HOXD13 has a confirmed association with VACTERL ASSOCIATION in Gene2Phenotype with anal atresia as a phenotype

Created: 4 Aug 2018, 11:12 p.m.