A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family
| Autor: | 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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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | International Journal of Ophthalmology, Vol 15, Iss 6, Pp 1015-1019 (2022) |
| Druh dokumentu: | article |
| ISSN: | 2222-3959 2227-4898 |
| DOI: | 10.18240/ijo.2022.06.22 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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