hide
Free keywords:
Adolescent; Animals; CHO Cells; Child, Preschool; Cricetinae; Cricetulus; Databases, Genetic; Exons/*genetics; Family Health; emale; *Genetic Predisposition to Disease; Glycosylphosphatidylinositols/metabolism; Humans; Hyperphosphatemia/*genetics; Infant; Male; Mannosyltransferases/*genetics; Mental Retardation/*genetics; Mutation/*genetics; Open Reading Frames/genetics; Syndrome; Transfection
Abstract:
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.