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 Type:	Refereed Article
Keywords:	Cataract-oto-dental syndrome; Microcornea; Nance Horan Syndrome; NHS gene; X-linked cataract
Research Division:	Biomedical and Clinical Sciences
Research Group:	Ophthalmology and optometry
Research Field:	Ophthalmology
Objective Division:	Health
Objective Group:	Clinical health
Objective Field:	Clinical health not elsewhere classified
UTAS Author:	Burdon, KP (Professor Kathryn Burdon)
ID Code:	90099
Year Published:	2013
Web of Science® Times Cited:	15
Deposited By:	Menzies Institute for Medical Research
Deposited On:	2014-03-27
Last Modified:	2014-04-29
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