title: Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.
abstract: 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.
authors.affiliation: Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany. kalscheu@molgen.mpg.de
authors.forename: Vera M
authors.initials: VM
authors.lastname: Kalscheuer
authors.forename: Kristine
authors.initials: K
authors.lastname: Freude
authors.forename: Luciana
authors.initials: L
authors.lastname: Musante
authors.forename: Lars R
authors.initials: LR
authors.lastname: Jensen
authors.forename: Helger G
authors.initials: HG
authors.lastname: Yntema
authors.forename: Jozef
authors.initials: J
authors.lastname: Gécz
authors.forename: Abdelaziz
authors.initials: A
authors.lastname: Sefiani
authors.forename: Kirsten
authors.initials: K
authors.lastname: Hoffmann
authors.forename: Bettina
authors.initials: B
authors.lastname: Moser
authors.forename: Stefan
authors.initials: S
authors.lastname: Haas
authors.forename: Ulf
authors.initials: U
authors.lastname: Gurok
authors.forename: Sebastian
authors.initials: S
authors.lastname: Haesler
authors.forename: Beatriz
authors.initials: B
authors.lastname: Aranda
authors.forename: Arpik
authors.initials: A
authors.lastname: Nshedjan
authors.forename: Andreas
authors.initials: A
authors.lastname: Tzschach
authors.forename: Nils
authors.initials: N
authors.lastname: Hartmann
authors.forename: Tim-Christoph
authors.initials: TC
authors.lastname: Roloff
authors.forename: Sarah
authors.initials: S
authors.lastname: Shoichet
authors.forename: Olivier
authors.initials: O
authors.lastname: Hagens
authors.forename: Jiong
authors.initials: J
authors.lastname: Tao
authors.forename: Hans
authors.initials: H
authors.lastname: Van Bokhoven
authors.forename: Gillian
authors.initials: G
authors.lastname: Turner
authors.forename: Jamel
authors.initials: J
authors.lastname: Chelly
authors.forename: Claude
authors.initials: C
authors.lastname: Moraine
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Ulrike
authors.initials: U
authors.lastname: Nuber
authors.forename: Maria
authors.initials: M
authors.lastname: Hoeltzenbein
authors.forename: Constance
authors.initials: C
authors.lastname: Scharff
authors.forename: Harry
authors.initials: H
authors.lastname: Scherthan
authors.forename: Steffen
authors.initials: S
authors.lastname: Lenzner
authors.forename: Ben C J
authors.initials: BC
authors.lastname: Hamel
authors.forename: Susann
authors.initials: S
authors.lastname: Schweiger
authors.forename: Hans-Hilger
authors.initials: HH
authors.lastname: Ropers
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D009842:Oligopeptides; C119246:PQBP1 protein, human; C407346:polyglutamine-binding protein 1