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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Nature genetics | Oct 29, 2010

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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Associated grants

  • Agency: Canadian Institutes of Health Research, Id:
  • Agency: Medical Research Council, Id:

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