|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
10
|
|
pubmed:dateCreated |
2010-9-29
|
|
pubmed:abstractText |
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:grant |
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Oct
|
|
pubmed:issn |
1546-1718
|
|
pubmed:author |
pubmed-author:BauerSebastianS,
pubmed-author:BrunnerHan GHG,
pubmed-author:ColeDavid EDE,
pubmed-author:DahlAndreasA,
pubmed-author:DoelkenSandraS,
pubmed-author:FischerAxelA,
pubmed-author:GrünhagenJohannesJ,
pubmed-author:HechtJochenJ,
pubmed-author:HornDeniseD,
pubmed-author:IsauMelanieM,
pubmed-author:JägerMartenM,
pubmed-author:KöhlerSebastianS,
pubmed-author:KölschUweU,
pubmed-author:KerickMartinM,
pubmed-author:KinoshitaTarohT,
pubmed-author:KrawitzPeter MPM,
pubmed-author:MarcelisCarloC,
pubmed-author:MeineckePeterP,
pubmed-author:MeiselChristianC,
pubmed-author:MundlosStefanS,
pubmed-author:MurakamiYoshikoY,
pubmed-author:PassargeEberhardE,
pubmed-author:RödelspergerChristianC,
pubmed-author:RobinsonPeter NPN,
pubmed-author:RoscioliTonyT,
pubmed-author:SchweigerMichal RMR,
pubmed-author:StephaniFriederikeF,
pubmed-author:ThompsonMiles DMD,
pubmed-author:de CondorBirgit JonskeBJ
|
|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
42
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
827-9
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:20802478-Adolescent,
pubmed-meshheading:20802478-Animals,
pubmed-meshheading:20802478-CHO Cells,
pubmed-meshheading:20802478-Child, Preschool,
pubmed-meshheading:20802478-Cricetinae,
pubmed-meshheading:20802478-Cricetulus,
pubmed-meshheading:20802478-Databases, Genetic,
pubmed-meshheading:20802478-Exons,
pubmed-meshheading:20802478-Family Health,
pubmed-meshheading:20802478-Female,
pubmed-meshheading:20802478-Genetic Predisposition to Disease,
pubmed-meshheading:20802478-Glycosylphosphatidylinositols,
pubmed-meshheading:20802478-Humans,
pubmed-meshheading:20802478-Hyperphosphatemia,
pubmed-meshheading:20802478-Infant,
pubmed-meshheading:20802478-Intellectual Disability,
pubmed-meshheading:20802478-Male,
pubmed-meshheading:20802478-Mannosyltransferases,
pubmed-meshheading:20802478-Mutation,
pubmed-meshheading:20802478-Open Reading Frames,
pubmed-meshheading:20802478-Syndrome,
pubmed-meshheading:20802478-Transfection
|
|
pubmed:year |
2010
|
|
pubmed:articleTitle |
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
|
|
pubmed:affiliation |
Max Planck Institute for Molecular Genetics, Berlin, Germany. peter.robinson@charite.de
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
