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

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

Author information

1
Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin, Germany. kalscheu@molgen.mpg.de

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.

PMID:
14634649
DOI:
10.1038/ng1264
[Indexed for MEDLINE]

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