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: 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 Tao, Hans 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
• Journal: Nature genetics (Nat Genet) Vol. 35 Issue 4 Pg. 313-5 (Dec 2003) ISSN: 1061-4036 [Print] United States
• PMID: 14634649 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Carrier Proteins
• DNA-Binding Proteins
• Nuclear Proteins
• Oligopeptides
• PQBP1 protein, human
• polyglutamine-binding protein 1

Topics

• Carrier Proteins (genetics)
• DNA-Binding Proteins
• Female
• Genetic Linkage
• Humans
• Male
• Mental Retardation, X-Linked (classification, etiology, genetics)
• Molecular Sequence Data
• Mutation (genetics)
• Nuclear Proteins (genetics)
• Oligopeptides (genetics)
• Pedigree
• Syndrome