دورية أكاديمية
A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)
| العنوان: | A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) |
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| المؤلفون: | Nabil Al Macki, Ismail Al Rashdi |
| المصدر: | Oman Medical Journal, Vol 32, Iss 1, Pp 66-68 (2017) |
| بيانات النشر: | Oman Medical Specialty Board, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Medicine |
| مصطلحات موضوعية: | Neurodegeneration with brain iron accumulation (NBIA), Genetics, C19orf12 protein, human, Medicine |
| الوصف: | Mutations in the C19orf12 gene are known to cause mitochondrial membrane protein-associated neurodegeneration (MPAN), which is a neurodegeneration with brain iron accumulation (NBIA) type 4 disorder. To the best of our knowledge, this is the first report of a genetically confirmed case of MPAN from Oman. A novel homozygous deletion of exon 2 of the C19orf12 gene was confirmed on the proband, a seven-year-old girl, who presented with gait instability. Brain magnetic resonance imaging showed iron deposition on the basal ganglia. This report highlights the importance of genetic testing of such a clinically and genetically heterogeneous condition among a population with a high consanguinity rate. To overcome the diagnostic difficulty, implementation of a cost-effective approach to perform cascade screening of carriers at risk is needed as well as programs to address risky consanguineous marriages. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1999-768X 2070-5204 |
| Relation: | http://omjournal.org/articleDetails.aspx?coType=1&aId=1862; https://doaj.org/toc/1999-768X; https://doaj.org/toc/2070-5204 |
| DOI: | 10.5001/omj.2017.12 |
| URL الوصول: | https://doaj.org/article/ee962cb0d8764e31adb5783ae972c3da |
| رقم الأكسشن: | edsdoj.962cb0d8764e31adb5783ae972c3da |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 1999768X 20705204 |
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| DOI: | 10.5001/omj.2017.12 |