New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands

• Published in: European journal of human genetics : EJHG Vol. 14; no. 9; pp. 986 - 990
• Main Authors: FLORIJN, Ralph J, LOVES, Willem, DE BUY WENNIGER-PRICK, Liesbeth J. J. M. Maillette, MANNENS, Marcel M. A. M, TIJMES, Nel, BROOKS, Simon P, HARDCASTLE, Alison J, BERGEN, Arthur A. B
• Format: Journal Article
• Language: English
• Published: Avenel, NJ Nature Publishing 01-09-2006; Nature Publishing Group
• Subjects: Abnormalities, Multiple - genetics; Alternative Splicing; Biological and medical sciences; Cataract - genetics; Cataracts; Congenital diseases; Disease; Ear; Female; General aspects. Genetic counseling; Genes; Genetics; Hereditary diseases; Humans; Intellectual disabilities; Lens diseases; Male; Medical genetics; Medical sciences; Microphthalmia; Mutation; Netherlands; Neurosciences; Nuclear Proteins - genetics; Ophthalmology; Patients; Pedigree; Proteins; Syndrome; United Kingdom; Netherlands; Europe; Health system; Sex linked character; Cataract; Congenital; Family study; congenital cataract; NHS gene; Syndrome; Genetic disease; Eye disease; Lens disease; Gene; Family environment; Nance-Horan syndrome; X-linked cataract; Genetics; X-Chromosome; Mutation; Anterior segment disease
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/sj.ejhg.5201671

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.