دورية أكاديمية
Achromatopsia caused by novel missense mutations in the CNGA3 gene
| العنوان: | Achromatopsia caused by novel missense mutations in the CNGA3 gene |
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| المؤلفون: | Xi-Teng Chen, Hui Huang, Yan-Hua Chen, Li-Jie Dong, Xiao-Rong Li, Xiao-Min Zhang |
| المصدر: | International Journal of Ophthalmology, Vol 8, Iss 5, Pp 910-915 (2015) |
| بيانات النشر: | Press of International Journal of Ophthalmology (IJO PRESS), 2015. |
| سنة النشر: | 2015 |
| المجموعة: | LCC:Ophthalmology |
| مصطلحات موضوعية: | achromatopsia, genetic analysis, missense mutation, Ophthalmology, RE1-994 |
| الوصف: | AIM:To identify the genetic defects in a Chinese family with achromatopsia.METHODS:A 2.5-year-old boy, who displayed nystagmus, photophobia, and hyperopia since early infancy, was clinically evaluated. To further confirm and localize the causative mutations in this family, targeted region capture and next-generation sequencing of candidate genes, such as CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H were performed using a custom-made capture array.RESULTS:Slit-lamp examination showed no specific findings in the anterior segments. The optic discs and maculae were normal on fundoscopy. The unaffected family members reported no ocular complaints. Clinical signs and symptoms were consistent with a clinical impression of autosomal recessive achromatopsia. The results of sequence analysis revealed two novel missense mutations in CNGA3, c.633T>A (p.D211E) and c.1006G>T (p.V336F), with an autosomal recessive mode of inheritance.CONCLUSION: Genetic analysis of a Chinese family confirmed the clinical diagnosis of achromatopsia. Two novel mutations were identified in CNGA3, which extended the mutation spectrum of this disorder. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2222-3959 2227-4898 |
| Relation: | http://www.ijo.cn/en_publish/2015/5/20150510.pdf; https://doaj.org/toc/2222-3959; https://doaj.org/toc/2227-4898 |
| DOI: | 10.3980/j.issn.2222-3959.2015.05.10 |
| URL الوصول: | https://doaj.org/article/f29fd1e1a2cc40d09811507f7dee39bc |
| رقم الأكسشن: | edsdoj.f29fd1e1a2cc40d09811507f7dee39bc |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22223959 22274898 |
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| DOI: | 10.3980/j.issn.2222-3959.2015.05.10 |