Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
In: Nature Genetics, Vol. 35 (2003), No. 4, pp. 313 - 315
Title in English:
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Author:
Kalscheuer, Vera M.;Freude, Kristine;Musante, Luciana;Jensen, Lars R.;Yntema, Helger G.;Gecz, Jozef;Sefiani, Abdelaziz;Hoffmann, KirstenUDE
- LSF ID
- 3128
- Other
- connected with university
- GND
- 115540466
- LSF ID
- 11099
- ORCID
- 0000-0001-6804-514X
- Other
- connected with university
Year of publication:
2003
Open Access?:
Open Access
DOI
Language of text:
English
Abstract:
The authors found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clin. 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.