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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Peter M Krawitz
1 ,
Michal R Schweiger ,
Christian Rödelsperger ,
Carlo Marcelis ,
Uwe Kölsch ,
Christian Meisel ,
Friederike Stephani ,
Taroh Kinoshita ,
Yoshiko Murakami ,
Sebastian Bauer ,
Melanie Isau ,
Axel Fischer ,
Andreas Dahl ,
Martin Kerick ,
Jochen Hecht ,
Sebastian Köhler ,
Marten Jäger ,
Johannes Grünhagen ,
Birgit Jonske de Condor ,
Sandra Doelken ,
Han G Brunner ,
Peter Meinecke ,
Eberhard Passarge ,
Miles D Thompson ,
David E Cole ,
Denise Horn ,
Tony Roscioli ,
Stefan Mundlos ,
Peter N Robinson
Oct 2010
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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.