Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
(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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https://lup.lub.lu.se/record/1128121
- author
- organization
- publishing date
- 2003
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Nature Genetics
- volume
- 35
- issue
- 4
- pages
- 313 - 315
- publisher
- Nature Publishing Group
- external identifiers
-
- pmid:14634649
- scopus:0345257776
- pmid:14634649
- 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
- 2016-04-01 16:22:59
- date last changed
- 2022-07-24 03:17:39
@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}}, doi = {{10.1038/ng1264}}, volume = {{35}}, year = {{2003}}, }