PURPOSE: To identiy the disease causing mutation in a Chinese family presenting with early-onset cataract and dental anomalies. MATERIALS AND METHODS: A specific Hereditary Eye Disease Enrichment Panel (HEDEP) (personalized customization by MyGenostics, Baltimore, MD) based on targeted exome capture technology was used to collect the protein coding regions of 30 early-onset cataract associated genes, and high throughput sequencing was done with Illumina HiSeq 2000 platform. The identified variant was confirmed with Sanger sequencing. RESULTS: A novel deletion in exon 4 (c.852delG) of NHS gene was identified; the identified 1 bp deletion altered the reading frame and was predicted to result in a premature stop codon after the addition of twelve novel amino acid (p.S285PfsX13). This mutation co-segregated in affected males and obligate female carriers, but was absent in 100 matched controls. CONCLUSIONS: Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.
PURPOSE: To identiy the disease causing mutation in a Chinese family presenting with early-onset cataract and dental anomalies. MATERIALS AND METHODS: A specific Hereditary Eye Disease Enrichment Panel (HEDEP) (personalized customization by MyGenostics, Baltimore, MD) based on targeted exome capture technology was used to collect the protein coding regions of 30 early-onset cataract associated genes, and high throughput sequencing was done with Illumina HiSeq 2000 platform. The identified variant was confirmed with Sanger sequencing. RESULTS: A novel deletion in exon 4 (c.852delG) of NHS gene was identified; the identified 1 bp deletion altered the reading frame and was predicted to result in a premature stop codon after the addition of twelve novel amino acid (p.S285PfsX13). This mutation co-segregated in affected males and obligate female carriers, but was absent in 100 matched controls. CONCLUSIONS: Our findings broaden the spectrum of NHS mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.
Authors: Nathalie Fieremans; Hilde Van Esch; Maureen Holvoet; Gert Van Goethem; Koenraad Devriendt; Monica Rosello; Sonia Mayo; Francisco Martinez; Shalini Jhangiani; Donna M Muzny; Richard A Gibbs; James R Lupski; Joris R Vermeesch; Peter Marynen; Guy Froyen Journal: Hum Mutat Date: 2016-05-25 Impact factor: 4.878