تفاصيل الوثيقة

نوع الوثيقة : مقال في مجلة دورية 
عنوان الوثيقة :
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
 
لغة الوثيقة : الانجليزية 
المستخلص : 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 
ردمد : 0022-510X 
اسم الدورية : Journal of the neurological sciences 
المجلد : 371 
العدد : 1 
سنة النشر : 1437 هـ
2016 م 
نوع المقالة : مقالة علمية 
تاريخ الاضافة على الموقع : Thursday, July 20, 2017 

الباحثون

اسم الباحث (عربي)اسم الباحث (انجليزي)نوع الباحثالمرتبة العلميةالبريد الالكتروني
Muhammad Imran NaseerNaseer, Muhammad Imranباحثدكتوراه 
Mahmood RasoolRasool, Mahmood باحثدكتوراه 
Mohammed M. JanJan, Mohammed M.باحثدكتوراه 
Adeel G ChaudharyChaudhary, Adeel Gباحثدكتوراه 
Peter Natesan PushparajPushparaj, Peter Natesanباحثدكتوراه 
Adel M. AbuzenadahAbuzenadah, Adel Mباحثدكتوراه 
Mohammad Al-QahtaniAl-Qahtani, Mohammad باحثدكتوراه 

الملفات

اسم الملفالنوعالوصف
 42144.pdf pdf 

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