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

doi:10.1038/ng1264

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Article

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

Nature genetics - 1 Dec 2003

Kalscheuer Vera M, Freude Kristine, Musante Luciana, Jensen Lars R, Yntema Helger G, Gécz Jozef, Sefiani Abdelaziz, Hoffmann Kirsten, Moser Bettina, Haas Stefan, Gurok Ulf, Haesler Sebastian, Aranda Beatriz, Nshedjan Arpik, Tzschach Andreas, Hartmann Nils, Roloff Tim-Christoph, Shoichet Sarah, Hagens Olivier, Tao Jiong, Van Bokhoven Hans, Turner Gillian, Chelly Jamel, Moraine Claude, Fryns Jean-Pierre, Nuber Ulrike, Hoeltzenbein Maria, Scharff Constance, Scherthan Harry, Lenzner Steffen, Hamel Ben C J, Schweiger Susann, Ropers Hans-Hilger

Abstract excerpt

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...

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Identifiers

PMID: 14634649
DOI: 10.1038/ng1264

Genes

PQBP1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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