title: A Turkish family with Nance-Horan Syndrome due to a novel mutation.
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.
authors.affiliation: Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Turkey. esratug@hotmail.com
authors.forename: Esra
authors.initials: E
authors.lastname: Tug
authors.forename: Nihal F
authors.initials: NF
authors.lastname: Dilek
authors.forename: Shahrbanou
authors.initials: S
authors.lastname: Javadiyan
authors.forename: Kathryn P
authors.initials: KP
authors.lastname: Burdon
authors.forename: Ferda E
authors.initials: FE
authors.lastname: Percin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002386:Cataract / Q000151:congenital* / Q000235:genetics; D002648:Child; D018388:Codon, Terminator; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014071:Tooth Abnormalities / Q000235:genetics*; D014421:Turkey
chemical_list: D018388:Codon, Terminator; D008565:Membrane Proteins; C488621:NHS protein, human; D009687:Nuclear Proteins