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Title: Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Authors: 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 #
Issue Date: Dec-2003
Series Title: Nature genetics. vol:35 issue:4 pages:313-5
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.
URI: 
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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