Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
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.
Kalscheuer
Vera M
VM
Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany. kalscheu@molgen.mpg.de
Freude
Kristine
K
Musante
Luciana
L
Jensen
Lars R
LR
Yntema
Helger G
HG
Gécz
Jozef
J
Sefiani
Abdelaziz
A
Hoffmann
Kirsten
K
Moser
Bettina
B
Haas
Stefan
S
Gurok
Ulf
U
Haesler
Sebastian
S
Aranda
Beatriz
B
Nshedjan
Arpik
A
Tzschach
Andreas
A
Hartmann
Nils
N
Roloff
Tim-Christoph
TC
Shoichet
Sarah
S
Hagens
Olivier
O
Tao
Jiong
J
Van Bokhoven
Hans
H
Turner
Gillian
G
Chelly
Jamel
J
Moraine
Claude
C
Fryns
Jean-Pierre
JP
Nuber
Ulrike
U
Hoeltzenbein
Maria
M
Scharff
Constance
C
Scherthan
Harry
H
Lenzner
Steffen
S
Hamel
Ben C J
BC
Schweiger
Susann
S
Ropers
Hans-Hilger
HH
D002352:Carrier Proteins / Q000235:genetics; D004268:DNA-Binding Proteins; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000145:classification / Q000209:etiology / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics; D009842:Oligopeptides / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D009842:Oligopeptides; C119246:PQBP1 protein, human; C407346:polyglutamine-binding protein 1