Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
- 23 November 2003
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 35 (4) , 313-315
- https://doi.org/10.1038/ng1264
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.Keywords
This publication has 13 references indexed in Scilit:
- Nonsyndromic X-linked mental retardation: where are the missing mutations?Trends in Genetics, 2003
- Interaction between Mutant Ataxin-1 and PQBP-1 Affects Transcription and Cell DeathNeuron, 2002
- PQBP-1 (Np/PQ): a polyglutamine tract-binding and nuclear inclusion-forming proteinBrain Research Bulletin, 2001
- Genomic organization and alternative transcripts of the human PQBP-1 geneGene, 2000
- PQBP-1/Npw38, a Nuclear Protein Binding to the Polyglutamine Tract, Interacts with U5-15kD/dim1p via the Carboxyl-Terminal DomainBiochemical and Biophysical Research Communications, 2000
- Identification, characterization and crystal structure analysis of the human spliceosomal U5 snRNP-specific 15 kd proteinJournal of Molecular Biology, 1999
- PQBP-1, a novel polyglutamine tract-binding protein, inhibits transcription activation by Brn-2 and affects cell survivalHuman Molecular Genetics, 1999
- Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcriptionNucleic Acids Research, 1999
- Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X‐linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studiesAmerican Journal of Medical Genetics, 1994
- Linkage studies with the gene for an X‐linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2)American Journal of Medical Genetics, 1988