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

Esra Tug, Nihal Dilek, Shahrbanou Javadiyan, Kathryn Burdon, Ferda Percin

    Research output: Contribution to journalArticlepeer-review

    14 Citations (Scopus)

    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.

    Original languageEnglish
    Pages (from-to)141-145
    Number of pages5
    JournalGene
    Volume525
    Issue number1
    DOIs
    Publication statusPublished - 1 Aug 2013

    Keywords

    • Cataract-oto-dental syndrome
    • Microcornea
    • Nance Horan Syndrome
    • NHS gene
    • X-linked cataract

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