Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

被引：129

作者：

Kalscheuer, VM

Freude, K

Musante, L

Jensen, LR

Yntema, HG

Gécz, J

Sefiani, A

Hoffmann, K

Moser, B

Haas, S

Gurok, U

Haesler, S

Aranda, B

Nshedjan, A

Tzschach, A

Hartmann, N

Roloff, TC

Shoichet, S

Hagens, O

Tao, J

van Bokhoven, H

Turner, G

Chelly, J

Moraine, C

Fryns, JP

Nuber, U

Hoeltzenbein, M

Scharff, C

Scherthan, H

Lenzner, S

Hamel, BCJ

Schweiger, S

Ropers, HH

机构：

[1] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[2] Univ Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[3] Womens & Childrens Hosp, Adelaide, SA, Australia

[4] Univ Adelaide, Adelaide, SA, Australia

[5] Dept Genet & Biol Mol INH, Rabat, Morocco

[6] Hunter Genet, Waratah, NSW 2298, Australia

[7] Univ Newcastle, Waratah, NSW 2298, Australia

[8] CHU Cochin Port Royal, INSERM, CNRS, Inst Cochin Genet Mol, F-75014 Paris, France

[9] CHU Bretonneau, INSERM, U316, Serv Genet, F-37044 Tours, France

[10] Catholic Univ Louvain, Ctr Human Genet, Clin Genet Unit, B-3000 Louvain, Belgium

来源：

NATURE GENETICS | 2003年 / 35卷 / 04期

基金：

英国医学研究理事会;

关键词：

D O I：

10.1038/ng1264

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：313 / 315

页数：4

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