Bryn D Webb, Sherin Shaaban, Harald Gaspar, Luis F Cunha, Christian R Schubert, Ke Hao, Caroline D Robson, Wai-Man Chan, Caroline Andrews, Sarah MacKinnon, Darren T Oystreck, David G Hunter, Anthony J Iacovelli, Xiaoqian Ye, Anne Camminady, Elizabeth C Engle, Ethylin Wang Jabs
Members of the highly conserved homeobox (HOX) gene family encode transcription factors that confer cellular and tissue identities along the antero-posterior axis of mice and humans. We have identified a founder homozygous missense mutation in HOXB1 in two families from a conservative German American population. The resulting phenotype includes bilateral facial palsy, hearing loss, and strabismus and correlates extensively with the previously reported Hoxb1(-/-) mouse phenotype. The missense variant is predicted to result in the substitution of a cysteine for an arginine at amino acid residue 207 (Arg207Cys), which corresponds to the highly conserved Arg5 of the homeodomain...
July 13, 2012: American Journal of Human Genetics