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