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A Turkish family with Nance-Horan syndrome due to a novel mutation

Citation

Tug, E and Dilek, NF and Javadiyan, S and Burdon, KP and Percin, FE, A Turkish family with Nance-Horan syndrome due to a novel mutation, Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function, 525, (1) pp. 141-145. ISSN 0378-1119 (2013) [Refereed Article]

Copyright Statement

Copyright 2013 Elsevier

DOI: doi:10.1016/j.gene.2013.03.094

Abstract

Nance-Horan Syndrome (NHS) is a rare X-linked syndrome characterized by congenital cataract which leads to profound vision loss, characteristic dysmorphic features and specific dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males. We describe two brothers who have the NHS phenotype and their carrier mother who had microcornea but not cataract. We identified a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in these patients and their mother which is predicted to result in the incorporation of 11 aberrant amino acids prior to a stop codon (p.E186Efs11X). We also discussed genotype-phenotype correlation according to relevant literature.

Item Details

Item Type:Refereed Article
Keywords:Cataract-oto-dental syndrome; Microcornea; Nance Horan Syndrome; NHS gene; X-linked cataract
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Burdon, KP (Associate Professor Kathryn Burdon)
ID Code:90099
Year Published:2013
Web of Science® Times Cited:6
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-03-27
Last Modified:2014-04-29
Downloads:0

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