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| Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing |
| 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, Hangzhou 310003, China; Beijing Genomics Institute (BGI)-Shenzhen, Shenzhen 518083, China; School of Basic Medical Sciences, Zhejiang University, Hangzhou 310058, China; Functional Genomics Center, Department of Pathology & Laboratory Medicine, University of Rochester Medical Center, West Henrietta, NY 14586, USA |
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Abstract 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 candidate 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 combination 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.
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Received: 22 December 2013
Published: 05 August 2014
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Cite this article:
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. 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, 15(8): 727-734.
URL:
http://www.zjujournals.com/xueshu/zjus-b/10.1631/jzus.B1300321 OR http://www.zjujournals.com/xueshu/zjus-b/Y2014/V15/I8/727
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