A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family |
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| Authors: | Hong-Yan Sun Hong-Jing Zhu Ru-Xu Sun Ying Wang Jia-Nan Wang Bing Qin Wei-Wei Zhang Jiang-Dong Ji |
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| Affiliation: | Department of Ophthalmology, the First People''s Hospital of Suqian, Suqian 223800, Jiangsu Province, China,Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, Jiangsu Province, China,Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, Jiangsu Province, China,Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, Jiangsu Province, China,Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, Jiangsu Province, China,Department of Ophthalmology, the First People''s Hospital of Suqian, Suqian 223800, Jiangsu Province, China,Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, Jiangsu Province, China and Department of Ophthalmology, the First Affiliated Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing 210029, Jiangsu Province, China |
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| Abstract: | AIM: To identify the disease-causing mutation in a four-generation Chinese family diagnosed with Nance-Horan syndrome (NHS).METHODS: A Chinese family, including four affected patients and four healthy siblings, was recruited. All family members received ophthalmic examinations with medical histories provided. Targeted next-generation sequencing approach was conducted on the two affected males to screen for their disease-causing mutations.RESULTS: Two male family members diagnosed with NHS manifested bilateral congenital cataracts microcornea, strabismus and subtle facial and dental abnormalities, while female carriers presented posterior Y-sutural cataracts. A novel frameshift mutation (c.3916_3919del) in the NHS gene was identified. This deletion was predicted to alter the reading frame and generate a premature termination codon after a new reading frame.CONCLUSION: The study discovers a new frameshift mutation in a Chinese family with NHS. The findings broaden the spectrum of NHS mutations that can cause NHS in Chinese patients. |
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| Keywords: | Nance-Horan Syndrome cataract next-generation sequencing NHS gene |
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