Adelaide Research & Scholarship
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https://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 DNA-Binding Proteins Nuclear Proteins Pedigree Mutation Molecular Sequence Data Female Male Genetic Linkage |
| Description: | Published online 23 November 2003 |
| Rights: | ©2003 Nature Publishing Group |
| DOI: | 10.1038/ng1264 |
| Published version: | http://dx.doi.org/10.1038/ng1264 |
| Appears in Collections: | Aurora harvest 4 Paediatrics publications |
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