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Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

Kalscheuer, Vera M; Freude, Kristine; Musante, Luciana; Jensen, Lars R; Yntema, Helger G; Gecz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina and Haas, Stefan, et al. (2003) In Nature Genetics 35(4). p.313-315
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.
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publication status
published
subject
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Nature Genetics
volume
35
issue
4
pages
313 - 315
publisher
Nature Publishing Group
external identifiers
  • pmid:14634649
  • scopus:0345257776
ISSN
1546-1718
DOI
10.1038/ng1264
language
English
LU publication?
yes
id
2e4acd89-3e5b-4296-a651-57d1209756a1 (old id 1128121)
date added to LUP
2008-06-04 12:01:47
date last changed
2018-01-07 09:14:25
@article{2e4acd89-3e5b-4296-a651-57d1209756a1,
  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.},
  author       = {Kalscheuer, Vera M and Freude, Kristine and Musante, Luciana and Jensen, Lars R and Yntema, Helger G and Gecz, Jozef and Sefiani, Abdelaziz and Hoffmann, Kirsten and Moser, Bettina and Haas, Stefan and Gurok, Ulf and Haesler, Sebastian and Aranda, Beatriz and Nshedjan, Arpik and Tzschach, Andreas and Hartmann, Nils and Roloff, Tim-Christoph and Shoichet, Sarah and Hagens, Oliver and Tao, Jiong and van Bokhoven, Hans and Turner, Gillian and Chelly, Jamel and Moraine, Claude and Fryns, Jean-Pierre and Nuber, Ulrike and Hoeltzenbein, Maria and Scharff, Constance and Scherthan, Harry and Lenzner, Steffen and Hamel, Ben CJ and Schweigger, Susann and Ropers, Hans-Hilger},
  issn         = {1546-1718},
  language     = {eng},
  number       = {4},
  pages        = {313--315},
  publisher    = {Nature Publishing Group},
  series       = {Nature Genetics},
  title        = {Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation},
  url          = {http://dx.doi.org/10.1038/ng1264},
  volume       = {35},
  year         = {2003},
}