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- Title
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
- Authors
Freude, Kristine; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Aranda, Beatriz; Nshedjan, Arpik; Tzschach, Andreas; Hartmann, Nils; Roloff, Tim-Christoph; Shoichet, Sarah; Hagens, Olivier; Jiong Tao, Olivier; Turner, Gillian; Chelly, Jamel; Moraine, Claude; Fryns, Jean-Pierre; Kalscheuer, Vera M.
- 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.
- Subjects
GENETIC disorders; X-linked intellectual disabilities; GENETIC mutation; CARRIER proteins; GENES; DEVELOPMENTAL disabilities
- Publication
Nature Genetics, 2003, Vol 35, Issue 4, p313
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng1264