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ID: 127750.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Authors:Kalscheuer, Vera M.; Freude, Kristine; Musante, Luciana; Jensen, Lars R.; Yntema, Helger G.; Gecz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Aranda, Beatriz; Nshedjan, Arpik; Tzschach, Andreas; Hartmann, Nils; Roloff, Tim-Christoph; Shoichet, Sarah; Hagens, Olivier; Tao, Jiong; van Bokhoven, Hans; Turner, Gillian; Chelly, Jamel; Moraine, Claude; Fryns, Jean-Pierre; Nuber, Ulrike; Hoeltzenbein, Maria; Scharff, Constance; Scherthan, Harry; Lenzner, Steffen; Hamel, Ben C. J.; Schweiger, Susann; Ropers, Hans-Hilger
Language:English
Date of Publication (YYYY-MM-DD):2003-12
Title of Journal:Nature Genetics
Journal Abbrev.:Nature Genet.
Volume:35
Issue / Number:4
Start Page:313
End Page:315
Review Status:not specified
Audience:Experts Only
Abstract / Description:We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder.
Comment of the Author/Creator:Date: 2003, Dec
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Max Planck Inst Mol Genet, D-14195 Berlin, Germany.; Univ Med Ctr, Dept Human Genet, Nijmegen, Netherlands.; Womens & Childrens Hosp, Adelaide, SA, Australia.; Univ Adelaide, Adelaide, SA, Australia.; Dept Genet & Biol Mol INH, Rabat, Morocco.; Hunter Genet, Waratah, NSW 2298, Australia.; Univ Newcastle, Waratah, NSW 2298, Australia.; CHU Cochin Port Royal, INSERM, CNRS, Inst Cochin Genet Mol, F-75014 Paris, France.; CHU Bretonneau, INSERM, U316, Serv Genet, F-37044 Tours, France.; Catholic Univ Louvain, Ctr Human Genet, Clin Genet Unit, B-3000 Louvain, Belgium.
Identifiers:ISI:000186791000010 [ID No:1]
ISSN:1061-4036 [ID No:2]
DOI:10.1038/ng1264 [ID No:3]
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