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

Nat Genet. 2003 Dec;35(4):313-5. doi: 10.1038/ng1264. Epub 2003 Nov 23.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

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

Substances

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

Associated data

  • GENBANK/AB016533
  • GENBANK/AF207550
  • GENBANK/AJ242829
  • RefSeq/NM_005710