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

Citation

Burdon, KP and McKay, JD and Sale, MM and Russell-Eggitt, IM and Mackey, DA and Wirth, MG and Elder, JE and Nicoll, A and Clarke, MP and Fitzgerald, LM and Stankovich, J and Shaw, MA and Sarma, S and Gajovic, S and Gruss, P and Ross, S and Thomas, P and Voss, AK and Thomas, T and Gecz, J and Craig, JE, Mutations in a Novel Gene, NHS, Cause the Pleiotropic Effects of Nance-Horan Syndrome, Including Severe Congenital Cataract, Dental Anomalies, and Mental Retardation, American Journal of Human Genetics, 73, (5) pp. 1120-1130. ISSN 0002-9297 (2003) [Refereed Article]

DOI: doi:10.1086/379381

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 ∼650 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.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Clinical Sciences
Research Field:Medical Genetics (excl. Cancer Genetics)
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Inherited Diseases (incl. Gene Therapy)
Author:Burdon, KP (Associate Professor Kathryn Burdon)
Author:McKay, JD (Dr James McKay)
Author:Sale, MM (Dr Michele Sale)
Author:Mackey, DA (Professor David Mackey)
Author:Fitzgerald, LM (Dr Liesel Fitzgerald)
Author:Stankovich, J (Dr Jim Stankovich)
Author:Craig, JE (Mr Jamie Craig)
ID Code:28206
Year Published:2003
Web of Science® Times Cited:59
Deposited By:Menzies Centre
Deposited On:2003-08-01
Last Modified:2005-09-02
Downloads:0

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