Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum alkaline phosphatase. We performed whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and performed computational inference of regions identical by descent in all siblings to establish PIGV, encoding a member of the GPI-anchor biosynthesis pathway, as the gene mutated in HPMR. We identified homozygous or compound heterozygous mutations in PIGV in three additional families.
Pubmed ID: 20802478 RIS Download
Mesh terms: Adolescent | Animals | CHO Cells | Child, Preschool | Cricetinae | Cricetulus | Databases, Genetic | Exons | Family Health | Female | Genetic Predisposition to Disease | Glycosylphosphatidylinositols | Humans | Hyperphosphatemia | Infant | Intellectual Disability | Male | Mannosyltransferases | Mutation | Open Reading Frames | Syndrome | Transfection
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