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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: | 67 |
| Deposited By: | Menzies Centre |
| Deposited On: | 2003-08-01 |
| Last Modified: | 2005-09-02 |
| Downloads: | 0 |
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