Identification of a Novel NHS Mutation in a Chinese Family with Nance-Horan Syndrome

Abstract

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.

• Chinese
• early-onset cataract
• mutation
• nance-Horan syndrome
• NHS gene

Acknowledgments

The authors are grateful to all family members for their participation in this study.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper. This study was supported by the National Natural Science Foundation of China (Grant 81170877).