title: New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.
abstract: Mutations in the NHS gene cause Nance-Horan Syndrome (NHS), a rare X-chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. We investigated the NHS gene in four additional families with NHS from the Netherlands, by dHPLC and direct sequencing. We identified an unique mutation in each family. Three out of these four mutations were not reported before. We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorders.
authors.affiliation: Department of Clinical and Molecular Ophthalmogenetics, The Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands.
authors.forename: Ralph J
authors.initials: RJ
authors.lastname: Florijn
authors.forename: Willem
authors.initials: W
authors.lastname: Loves
authors.forename: Liesbeth J J M
authors.initials: LJ
authors.lastname: Maillette de Buy Wenniger-Prick
authors.forename: Marcel M A M
authors.initials: MM
authors.lastname: Mannens
authors.forename: Nel
authors.initials: N
authors.lastname: Tijmes
authors.forename: Simon P
authors.initials: SP
authors.lastname: Brooks
authors.forename: Alison J
authors.initials: AJ
authors.lastname: Hardcastle
authors.forename: Arthur A B
authors.initials: AA
authors.lastname: Bergen
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D017398:Alternative Splicing; D002386:Cataract / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins; D009154:Mutation; D009426:Netherlands; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
chemical_list: D008565:Membrane Proteins; C488621:NHS protein, human; D009687:Nuclear Proteins