Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Details
Publication Year 2003-11, Volume 73, Issue #5, Page 1120-1130
Journal Title
AMERICAN JOURNAL OF HUMAN GENETICS
Publication Type
Journal Article
Abstract
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 in the original, extended Australian family with NHS and have identified protein-truncating mutations in a novel gene, which we have called "NHS," in five families. The NHS gene encompasses similar to650 kb of genomic DNA, coding for a 1,630-amino acid putative nuclear protein. NHS orthologs were found in other vertebrates, but no sequence similarity to known genes was identified. The murine developmental expression profile of the NHS gene was studied using in situ hybridization and a mouse line containing a lacZ reporter-gene insertion in the Nhs locus. We found a complex pattern of temporally and spatially regulated expression, which, together with the pleiotropic features of NHS, suggests that this gene has key functions in the regulation of eye, tooth, brain, and craniofacial development.
Publisher
UNIV CHICAGO PRESS
Keywords
X-LINKED CATARACT; LINKAGE ANALYSIS; 4 FAMILIES; LOCALIZATION; MOUSE; LOCUS; IDENTIFICATION; CHROMOSOME; ASSIGNMENT; UNDERLIE
Publisher's Version
https://doi.org/10.1086/379381
Rights Notice
Refer to copyright notice on published article.


Creation Date: 2003-11-01 12:00:00
Last Modified: 0001-01-01 12:00:00
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