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          Institute: MPI für molekulare Genetik     Collection: Research Group Development and Disease     Display Documents



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ID: 539693.0, MPI für molekulare Genetik / Research Group Development and Disease
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Authors:Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.
Language:English
Research Context:This work was supported by a grant from the Deutsche Forschungsgemeinschaft (SFB 665) to S.M., by a grant from Bundesministerium für Bildung und Forschung (BMBF, project number 0313911) and an Australian National Health and Medical Research Council international research training fellowship to T.R., and by a grant of the Canadian Institutes of Health Research and Epilepsy Canada to M.D.T.
Date of Publication (YYYY-MM-DD):2010-08-29
Title of Journal:Nature Genetics
Journal Abbrev.:Nat Genet
Volume:42
Issue / Number:10
Start Page:827
End Page:829
Copyright:© 2010, Nature Publishing Group
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
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
Comment of the Author/Creator:Correspondence to:
Stefan Mundlos
or
Peter N Robinson
External Publication Status:published
Document Type:Article
Communicated by:Stefan Mundlos
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Institut für Medizinische Genetik, Charité Universitätsmedizin Berlin, Berlin, Germany;
2.Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité -Universitätsmedizin Berlin, Berlin, Germany;
3.Department of Human Genetics, University Medical Centre St. Radboud, Nijmegen, The Netherlands;
4.Institut für Medizinische Immunologie, Charité Universitätsmedizin Berlin, Berlin, Germany,
5.Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan;
6.Medizinische Genetik, Altonaer Kinderkrankenhaus, Hamburg, Germany;
7.nstitut für Humangenetik, Universitätsklinikum Essen, Essen, Germany;
8.Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada;
9.Department of Molecular and Clinical Genetics, University of Sydney, Sydney, Australia.
Identifiers:ISSN:1061-4036 10.1038/ng.653 [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/pubmed/20802478 [ID No:2]
DOI:10.1038/ng.653 [ID No:3]
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