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

Tuğ E., Dilek N. F., Javadiyan S., Burdon K. P., Perçin F. E.

GENE, cilt.525, sa.1, ss.141-145, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 525 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.gene.2013.03.094
  • Dergi Adı: GENE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.141-145
  • Anahtar Kelimeler: 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
  • Gazi Üniversitesi Adresli: Evet

Özet

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.