Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation inLRP5
| العنوان: | Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation inLRP5 |
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| المؤلفون: | Noura Biha, Corinne Collet, Mohamed Mahmoud El Hacen, S. M. Ghaber |
| المصدر: | Case Reports in Genetics, Vol 2016 (2016) Case Reports in Genetics |
| بيانات النشر: | Hindawi Limited, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | 0301 basic medicine, Genetics, lcsh:QH426-470, business.industry, Nonsense mutation, Case Report, 030209 endocrinology & metabolism, LRP5, General Medicine, Gene mutation, medicine.disease, law.invention, lcsh:Genetics, 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, law, Mutation (genetic algorithm), Medicine, business, Juvenile osteoporosis, Gene, Polymerase chain reaction |
| 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 thirdβ-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. |
| تدمد: | 2090-6552 2090-6544 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b811b0d557670aa5afc4d3b874f11903Test https://doi.org/10.1155/2016/9814928Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....b811b0d557670aa5afc4d3b874f11903 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20906552 20906544 |
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