دورية أكاديمية
A nonsense mutation in a family with congenital aniridia
| العنوان: | A nonsense mutation in a family with congenital aniridia |
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| المؤلفون: | Kyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheong |
| المصدر: | Korean Journal of Pediatrics, Vol 59, Iss Suppl 1, Pp S1-S4 (2016) |
| بيانات النشر: | Korean Pediatric Society, 2016. |
| سنة النشر: | 2016 |
| المجموعة: | LCC:Pediatrics |
| مصطلحات موضوعية: | Congenital aniridia, WAGR syndrome, Gene, Wilms tumor, PAX6 protein, Pediatrics, RJ1-570 |
| الوصف: | Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutation (p.Ser122*) in the PAX6 gene. Thus, our findings reiterate the importance of PAX6 mutations in congenital aniridia. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1738-1061 2092-7258 |
| العلاقة: | http://kjp.or.kr/upload/pdf/kjped-59-S1.pdfTest; https://doaj.org/toc/1738-1061Test; https://doaj.org/toc/2092-7258Test |
| DOI: | 10.3345/kjp.2016.59.11.S1 |
| الوصول الحر: | https://doaj.org/article/6bd7f7b8dad64c97ac756e262ff78178Test |
| رقم الانضمام: | edsdoj.6bd7f7b8dad64c97ac756e262ff78178 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 17381061 20927258 |
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| DOI: | 10.3345/kjp.2016.59.11.S1 |