Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation

摘要: Nance-Horan syndrome (NHS) is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. NHS has been mapped to a 1.3-Mb interval on Xp22.13. We have confirmed the same localization original, extended Australian family with and identified protein-truncating mutations novel gene, which we called “NHS,” five families. The gene encompasses ∼650 kb of genomic DNA, coding for 1,630–amino acid putative nuclear protein. orthologs were found other vertebrates, but no sequence similarity known genes was identified. murine developmental expression profile studied using situ hybridization mouse line containing lacZ reporter-gene insertion Nhs locus. complex pattern temporally spatially regulated expression, which, together pleiotropic features NHS, suggests that this key functions regulation eye, tooth, brain, craniofacial development.