Document Details

Document Type : Article In Journal 
Document Title :
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
 
Document Language : English 
Abstract : 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 
ISSN : 0022-510X 
Journal Name : Journal of the neurological sciences 
Volume : 371 
Issue Number : 1 
Publishing Year : 1437 AH
2016 AD 
Article Type : Article 
Added Date : Thursday, July 20, 2017 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Muhammad Imran NaseerNaseer, Muhammad ImranResearcherDoctorate 
Mahmood RasoolRasool, Mahmood ResearcherDoctorate 
Mohammed M. JanJan, Mohammed M.ResearcherDoctorate 
Adeel G ChaudharyChaudhary, Adeel GResearcherDoctorate 
Peter Natesan PushparajPushparaj, Peter NatesanResearcherDoctorate 
Adel M. AbuzenadahAbuzenadah, Adel MResearcherDoctorate 
Mohammad Al-QahtaniAl-Qahtani, Mohammad ResearcherDoctorate 

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