Identification of a Novel NHS Mutation in a Chinese Family with Nance-Horan Syndrome. (April 2015)

• Record Type: Journal Article
• Authors: Li, Aijun; Li, Bingzhen; Wu, Lemeng; Yang, Liping; Chen, Ningning; Ma, Zhizhong
• Is Part Of: Current eye research. Volume 40:Number 4(2015:Apr.)
• Page Start: 434
• Page End: 438
• Publication Date: 2015-04
• Subjects: Ophthalmology -- Periodicals; Eye -- Diseases -- Periodicals; Ophthalmology -- Periodicals; 573.88
• DOI: 10.3109/02713683.2014.959606
• Languages: English
• ISSNs: 0271-3683

Abstract

<abstract> <title>Abstract</title> <p> <italic>Purpose</italic>: To identiy the disease causing mutation in a Chinese family presenting with early-onset cataract and dental anomalies.</p> <p> <italic>Materials and Methods</italic>: 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.</p> <p> <italic>Results</italic>: A novel deletion in exon 4 (c.852delG) of <italic>NHS</italic> 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.</p> <p> <italic>Conclusions</italic>: Our findings broaden the spectrum of <italic>NHS</italic> mutations causing Nance-Horan syndrome and phenotypic spectrum of the disease in Chinese patients.</p> </abstract>