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

Vera M. Kalscheuer, Kristine Freude, Luciana Musante, Lars R. Jensen, Helger G. Yntema, Jozef Gécz, 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, Olivier Hagens, Jiong TaoHans Van Bokhoven, Gillian Turner, Jamel Chelly, Claude Moraine, Jean Pierre Fryns, Ulrike Nuber, Maria Hoeltzenbein, Constance Scharff, Harry Scherthan, Steffen Lenzner, Ben C.J. Hamel, Susann Schweiger, Hans Hilger Ropers

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125 Citations (Scopus)


We found mutations in the gene PQBPI 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.

Original languageEnglish
Pages (from-to)313-315
Number of pages3
JournalNature Genetics
Issue number4
Publication statusPublished or Issued - Dec 2003
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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