Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7725
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Type: Journal article
Title: Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Author: Kalscheuer, V.
Freude, K.
Musante, L.
Jensen, L.
Yntema, H.
Gecz, J.
Sefiani, A.
Hoffmann, K.
Moser, B.
Haas, S.
Gurok, U.
Haesler, S.
Aranda, B.
Nshedjan, A.
Tzschach, A.
Hartmann, N.
Roloff, T.
Shoichet, S.
Hagens, O.
Tao, J.
et al.
Citation: Nature Genetics, 2003; 35(4):313-315
Publisher: Nature America Inc
Issue Date: 2003
ISSN: 1061-4036
1546-1718
Statement of
Responsibility: 
Vera M Kalscheuer, Kristine Freude, Luciana Musante, Lars R Jensen, Helger G Yntema, Jozef Gécz, Abdelaziz Sefiani, Kirsten Hoffmann, Bettina Moser, Stefan Haas, Ulf Gurok, Sebastian Haesler, Beatriz Aranda, Arpik Nshedjan, Andreas Tzschach, Nils Hartmann, Tim-Christoph Roloff, Sarah Shoichet, Olivier Hagens, Jiong Tao, Hans van Bokhoven, Gillian Turner, Jamel Chelly, Claude Moraine, Jean-Pierre Fryns, Ulrike Nuber, Maria Hoeltzenbein, Constance Scharff, Harry Scherthan, Steffen Lenzner, Ben C J Hamel, Susann Schweiger & Hans-Hilger Ropers
Abstract: 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.
Keywords: Humans; Mental Retardation, X-Linked; Syndrome; Oligopeptides; Carrier Proteins; Nuclear Proteins; Pedigree; Mutation; Molecular Sequence Data; Female; Male; Genetic Linkage
Description: Published online 23 November 2003
Rights: ©2003 Nature Publishing Group
RMID: 0020031043
DOI: 10.1038/ng1264
Appears in Collections:Paediatrics publications

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