Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
VM Kalscheuer, K Freude, L Musante, LR Jensen… - Nature …, 2003 - nature.com
Nature genetics, 2003•nature.com
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.
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.
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.
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