تفاصيل الوثيقة
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نوع الوثيقة |
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مقال في مجلة دورية |
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عنوان الوثيقة |
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A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family |
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لغة الوثيقة |
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الانجليزية |
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المستخلص |
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PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol
(GPI)-anchor maturation. At the surface of the cell this gene is required for proper expression of GPI-anchored
proteins. Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually
characterized by severemental retardation.Mutations in the PGAP2 gene cause hyperphosphatasia mental retardation
syndrome-3. We have identified a large consanguineous family from Saudi origin segregating developmental
delay, intellectual disability, epilepsy and microcephaly. Whole exome sequencing with 100× coverage
was performed on two affected siblings of the family. Data analysis in the patient revealed a novel missense
mutation c.191CNT in PGAP2 gene resulting in Alanine to Valine substitution (Ala64Val). The mutation was
reconfirmed and validated by subsequent Sanger sequencing method. The mutation was ruled out in 100 unrelated
healthy controls. We suggest that this pathogenic mutation disrupts the proper function of the gene proteins
resulting in the disease state |
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ردمد |
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0022-510X |
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اسم الدورية |
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Journal of the neurological sciences |
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المجلد |
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371 |
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العدد |
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1 |
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سنة النشر |
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1437 هـ
2016 م |
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نوع المقالة |
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مقالة علمية |
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تاريخ الاضافة على الموقع |
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Thursday, July 20, 2017 |
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الباحثون
| Muhammad Imran Naseer | Naseer, Muhammad Imran | باحث | دكتوراه | |
| Mahmood Rasool | Rasool, Mahmood | باحث | دكتوراه | |
| Mohammed M. Jan | Jan, Mohammed M. | باحث | دكتوراه | |
| Adeel G Chaudhary | Chaudhary, Adeel G | باحث | دكتوراه | |
| Peter Natesan Pushparaj | Pushparaj, Peter Natesan | باحث | دكتوراه | |
| Adel M. Abuzenadah | Abuzenadah, Adel M | باحث | دكتوراه | |
| Mohammad Al-Qahtani | Al-Qahtani, Mohammad | باحث | دكتوراه | |
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الرجوع إلى صفحة الأبحاث
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