title: Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
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.
authors.affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany. peter.robinson@charite.de
authors.forename: Peter M
authors.initials: PM
authors.lastname: Krawitz
authors.forename: Michal R
authors.initials: MR
authors.lastname: Schweiger
authors.forename: Christian
authors.initials: C
authors.lastname: Rödelsperger
authors.forename: Carlo
authors.initials: C
authors.lastname: Marcelis
authors.forename: Uwe
authors.initials: U
authors.lastname: Kölsch
authors.forename: Christian
authors.initials: C
authors.lastname: Meisel
authors.forename: Friederike
authors.initials: F
authors.lastname: Stephani
authors.forename: Taroh
authors.initials: T
authors.lastname: Kinoshita
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Murakami
authors.forename: Sebastian
authors.initials: S
authors.lastname: Bauer
authors.forename: Melanie
authors.initials: M
authors.lastname: Isau
authors.forename: Axel
authors.initials: A
authors.lastname: Fischer
authors.forename: Andreas
authors.initials: A
authors.lastname: Dahl
authors.forename: Martin
authors.initials: M
authors.lastname: Kerick
authors.forename: Jochen
authors.initials: J
authors.lastname: Hecht
authors.forename: Sebastian
authors.initials: S
authors.lastname: Köhler
authors.forename: Marten
authors.initials: M
authors.lastname: Jäger
authors.forename: Johannes
authors.initials: J
authors.lastname: Grünhagen
authors.forename: Birgit Jonske
authors.initials: BJ
authors.lastname: de Condor
authors.forename: Sandra
authors.initials: S
authors.lastname: Doelken
authors.forename: Han G
authors.initials: HG
authors.lastname: Brunner
authors.forename: Peter
authors.initials: P
authors.lastname: Meinecke
authors.forename: Eberhard
authors.initials: E
authors.lastname: Passarge
authors.forename: Miles D
authors.initials: MD
authors.lastname: Thompson
authors.forename: David E
authors.initials: DE
authors.lastname: Cole
authors.forename: Denise
authors.initials: D
authors.lastname: Horn
authors.forename: Tony
authors.initials: T
authors.lastname: Roscioli
authors.forename: Stefan
authors.initials: S
authors.lastname: Mundlos
authors.forename: Peter N
authors.initials: PN
authors.lastname: Robinson
mesh_terms: D000293:Adolescent; D000818:Animals; D016466:CHO Cells; D002675:Child, Preschool; D006224:Cricetinae; D003412:Cricetulus; D030541:Databases, Genetic; D005091:Exons / Q000235:genetics*; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease; D017261:Glycosylphosphatidylinositols / Q000378:metabolism; D006801:Humans; D054559:Hyperphosphatemia / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008364:Mannosyltransferases / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D013577:Syndrome; D014162:Transfection
chemical_list: D017261:Glycosylphosphatidylinositols; D008364:Mannosyltransferases; C553105:PIGV protein, human
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