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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
Statement of
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
Carrier Proteins
DNA-Binding Proteins
Nuclear Proteins
Molecular Sequence Data
Genetic Linkage
Description: Published online 23 November 2003
Rights: ©2003 Nature Publishing Group
DOI: 10.1038/ng1264
Published version:
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