Academic Journal
Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype
| العنوان: | Exome sequencing for mucolipidosis III: Detection of a novel GNPTAB gene mutation in a patient with a very mild phenotype |
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| المؤلفون: | F. Sperb-Ludwig, T. Alegra, R.V. Velho, N. Ludwig, C.A. Kim, F. Kok, J.P. Kitajima, E. van Meel, S. Kornfeld, M.G. Burin, I.V.D. Schwartz |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 34-37 (2015) |
| بيانات النشر: | Elsevier, 2015. |
| سنة النشر: | 2015 |
| المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
| مصطلحات موضوعية: | Mucolipidosis II/III alpha/beta, Whole exome sequencing, Molecular diagnosis, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| الوصف: | Mucolipidosis II and III alpha/beta (ML II/III alpha/beta) are rare autosomal recessive lysosomal storage diseases that are caused by a deficiency of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, the enzyme responsible for the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. A Brazilian patient suspected of having a very mild ML III was investigated using whole next-generation sequencing (NGS). Two mutations in the GNPTAB gene were detected and confirmed to be in trans status by parental analysis: c.1208T>C (p.Ile403Thr), previously reported as being pathogenic, and the novel mutation c.1723G>A (p.Gly575Arg). This study demonstrates the effectiveness of using whole NGS for the molecular diagnosis of very mild ML III alpha/beta patients. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2214-4269 |
| Relation: | http://www.sciencedirect.com/science/article/pii/S2214426914000809; https://doaj.org/toc/2214-4269 |
| DOI: | 10.1016/j.ymgmr.2014.12.001 |
| URL الوصول: | https://doaj.org/article/9652d90856f74d1c870f254de217ffb9 |
| رقم الانضمام: | edsdoj.9652d90856f74d1c870f254de217ffb9 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22144269 |
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| DOI: | 10.1016/j.ymgmr.2014.12.001 |