Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
In: Nature Genetics, Jg. 35 (2003), Heft 4, S. 313 - 315
Titel in Englisch:
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Autor*in:
Kalscheuer, Vera M.;Freude, Kristine;Musante, Luciana;Jensen, Lars R.;Yntema, Helger G.;Gecz, Jozef;Sefiani, Abdelaziz;Hoffmann, KirstenUDE
- LSF ID
- 3128
- Sonstiges
- der Hochschule zugeordnete*r Autor*in
- GND
- 115540466
- LSF ID
- 11099
- ORCID
- 0000-0001-6804-514X
- Sonstiges
- der Hochschule zugeordnete*r Autor*in
Erscheinungsjahr:
2003
Open Access?:
Open Access
DOI
Sprache des Textes:
Englisch
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.