Kalscheuer, Vera M.; Freude, Kristine; Musante, Luciana; Jensen, Lars R.; Yntema, Helger G.; Gecz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Aranda, Beatriz; Nshedjan, Arpik; Tzschach, Andreas; Ropers, Hans-Hilger et al:
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
In: Nature Genetics, Vol. 35 (2003), No. 4, pp. 313 - 315
2003article/chapter in journalOpen Access
Chemistry
Related: 1 publication(s)
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
;Moser, Bettina;Haas, Stefan;Gurok, Ulf;Haesler, Sebastian;Aranda, Beatriz;Nshedjan, Arpik;Tzschach, Andreas;Hartmann, NilsUDE
GND
115540466
LSF ID
11099
ORCID
0000-0001-6804-514XORCID iD
Other
connected with university
;Roloff, Tim-Christoph;Shoichet, Sarah;Hagens, Olivier;Tao, Jiong;van Bokhoven, Hans;Turner, Gillian;Chelly, Jamel;Moraine, Claude;Fryns, Jean-Pierre;Nuber, Ulrike;Hoeltzenbein, Maria;Scharff, Constance;Scherthan, Harry;Lenzner, Steffen;Hamel, Ben C. J.;Schweiger, Susann;Ropers, Hans-Hilger
View additional 17 authors
Year of publication:
2003
Open Access?:
Open Access
DOI
10.1038/ng1264
Language of text:
English
Appears in
Nature Genetics
Title in English (abbreviated):
Nat Genet
Place of publication:
Berlin
Publisher:
Nature Publishing Group
in:
Vol. 35 (2003), No. 4, pp. 313 - 315
ISSN
1061-4036 Show availability online & print
ISSN
1546-1718 Show availability online & print
ZDB ID
1494946-5
Library shelfmark:
16 ZM 33

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.