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  Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Krawitz, P. M., Schweiger, M. R., Rödelsperger, C., Marcelis, C., Kölsch, U., Meisel, C., et al. (2010). Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nature Genetics, 42(10), 827-829. doi:10.1038/ng.653.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7A6D-E Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7A6E-C
Genre: Journal Article
Alternative Title : Nat Genet

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 Creators:
Krawitz, P. M.1, Author
Schweiger, M. R.2, Author              
Rödelsperger, C.3, Author              
Marcelis, C., Author
Kölsch, U., Author
Meisel, C., Author
Stephani, F., Author
Kinoshita, T., Author
Murakami, Y., Author
Bauer, S., Author
Isau, M.2, Author              
Fischer, A.2, Author              
Dahl, A.4, Author              
Kerick, M.2, Author              
Hecht, J.3, Author              
Köhler, S., Author
Jager, M., Author
Grünhagen, J., Author
de Condor, B. J., Author
Doelken, S., Author
Brunner, H. G., AuthorMeinecke, P., AuthorPassarge, E., AuthorThompson, M. D., AuthorCole, D. E., AuthorHorn, D., AuthorRoscioli, T., AuthorMundlos, S.3, Author              Robinson, P. N.3, Author               more..
Affiliations:
1Max Planck Society, ou_persistent13              
2Cancer Genomics (Michal-Ruth Schweiger), Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479649              
3Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              
4Dept. of Vertebrate Genomics (Head: Hans Lehrach), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433550              

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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.

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Language(s): eng - English
 Dates: 2010-08-29
 Publication Status: Published in print
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Title: Nature Genetics
  Alternative Title : Nat Genet
Source Genre: Journal
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Pages: - Volume / Issue: 42 (10) Sequence Number: - Start / End Page: 827 - 829 Identifier: ISSN: 1061-4036 10.1038/ng.653