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

Research output: Contribution to journalArticle


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.


  • 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
  • And 13 others
  • 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
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cell and Molecular Biology
Original languageEnglish
Pages (from-to)313-315
JournalNature Genetics
Issue number4
Publication statusPublished - 2003
Publication categoryResearch