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Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2014年第8期15卷 727-734页

作者： Nan HONG Yan-hua CHEN Chen xIE Bai-sheng xU Hui HUANG xin LI Yue-qing YANG Ying-ping HUANG Jian-lian DENG Ming QI Yang-shun GU Department of Ophthalmology the First Affiliated Hospital School of Medicine Zhejiang University Beijing Genomics Institute (BGI)-Shenzhen School of Basic Medical Sciences Zhejiang University Functional Genomics Center Department of Pathology & Laboratory Medicine University of Rochester Medical Center

Objective： Nance-Horan syndrome （NHS） is a rare x-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. Methods： Whole exome sequencing analysis was performed on DNA from an affected male to scan for can- didate mutations on the x-chromosome. Sanger sequencing was used to verify these candidate mutations in the whole family. Clinical and ophthalmological examinations were performed on all members of the family. Results： A combi- nation of exome sequencing and Sanger sequencing revealed a nonsense mutation c.322G〉T （E108x）in exon 1 of NHS gene, co-segregating with the disease in the family. The nonsense mutation led to the conversion of glutamic acid to a stop codon （E108x）, resulting in truncation of the NHS protein. Multiple sequence alignments showed that codon 108, where the mutation （c.322G〉T） occurred, was located within a phylogenetically conserved region. The clinical features in all affected males and female carriers are described in detail. Conclusions： We report a nonsense mutation c.322G〉T （E108x） in a Chinese family with NHS. Our findings broaden the spectrum of NHS mutations and provide molecular insight into future NHS clinical genetic diagnosis.

关键词： Nance-Horan syndrome (NHS) Exome sequencing x-linked disorder

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