دورية أكاديمية
Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5
| العنوان: | Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation in LRP5 |
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| المؤلفون: | Noura Biha, S. M. Ghaber, M. M. Hacen, Corinne Collet |
| المصدر: | Case Reports in Genetics, Vol 2016 (2016) |
| بيانات النشر: | Hindawi Limited, 2016. |
| سنة النشر: | 2016 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | Genetics, QH426-470 |
| الوصف: | Osteoporosis-pseudoglioma (OPPG) syndrome is a very rare autosomal recessive disorder, caused by mutations in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. It manifests by severe juvenile osteoporosis with congenital or infancy-onset visual loss. We describe a case of OPPG due to novel mutation in LRP5 gene, occurring in a female Mauritanian child. This 10-year-old female child was born blind, and after then multiple fragility fractures appeared. PCR amplification and sequencing revealed a novel homozygous nonsense mutation in exon 10 of the LRP5 gene (c.2270G>A; pTrP757⁎); this mutation leads to the production of a truncated protein containing 757 amino acids instead of 1615, located in the third β-propeller domain of the LRP5 protein. Both parents were heterozygous for the mutation. This is the first case of the OPPG described in black Africans, which broadens the spectrum of LRP5 gene mutations in OPPG. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2090-6544 2090-6552 |
| العلاقة: | https://doaj.org/toc/2090-6544Test; https://doaj.org/toc/2090-6552Test |
| DOI: | 10.1155/2016/9814928 |
| الوصول الحر: | https://doaj.org/article/6d8617b3c0dc4992bb2d1693bfaf3e3eTest |
| رقم الانضمام: | edsdoj.6d8617b3c0dc4992bb2d1693bfaf3e3e |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20906544 20906552 |
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| DOI: | 10.1155/2016/9814928 |