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


TUĞ E., Dilek N. F. , Javadiyan S., Burdon K. P. , PERÇİN F. E.

GENE, vol.525, no.1, pp.141-145, 2013 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 525 Issue: 1
  • Publication Date: 2013
  • Doi Number: 10.1016/j.gene.2013.03.094
  • Journal Name: GENE
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.141-145
  • Keywords: Cataract-oto-dental syndrome, Microcornea, Nance Horan Syndrome, NHS gene, X-linked cataract, X-LINKED CATARACT, NHS GENE, MENTAL-RETARDATION, BILATERAL CATARACT, LINKAGE ANALYSIS, IDENTIFICATION, LOCALIZATION, ISOFORM, EXPRESSION, PROTEIN

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. (C) 2013 Elsevier B.V. All rights reserved.