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

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Author

  • Vera M Kalscheuer
  • Kristine Freude
  • Luciana Musante
  • Lars R Jensen
  • Helger G Yntema
  • Jozef Gecz
  • Abdelaziz Sefiani
  • Kirsten Hoffmann
  • Bettina Moser
  • Stefan Haas
  • Ulf Gurok
  • Sebastian Haesler
  • Beatriz Aranda
  • Arpik Nshedjan
  • Andreas Tzschach
  • Nils Hartmann
  • Tim-Christoph Roloff
  • Sarah Shoichet
  • Oliver Hagens
  • Jiong Tao
  • Hans van Bokhoven
  • Gillian Turner
  • Jamel Chelly
  • Claude Moraine
  • Jean-Pierre Fryns
  • Ulrike Nuber
  • Maria Hoeltzenbein
  • Constance Scharff
  • Harry Scherthan
  • Steffen Lenzner
  • Ben CJ Hamel
  • Susann Schweigger
  • Hans-Hilger Ropers
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Summary, in English

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.

Department/s

Publishing year

2003

Language

English

Pages

313-315

Publication/Series

Nature Genetics

Volume

35

Issue

4

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Cell and Molecular Biology

Status

Published

ISBN/ISSN/Other

  • ISSN: 1546-1718