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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 127726.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
Authors:Kalscheuer, Vera M.; Tao, Jiong; Donnelly, Andrew; Hollway, Georgina; Schwinger, Eberhard; Kubart, Sabine; Menzel, Corinna; Hoeltzenbein, Maria; Tommerup, Niels; Eyre, Helen; Harbord, Michael; Haan, Eric; Sutherland, Grant R.; Ropers, Hans-Hilger; Gécz, Josef
Language:English
Date of Publication (YYYY-MM-DD):2003-06
Title of Journal:American Journal of Human Genetics
Journal Abbrev.:Am. J. Hum. Genet.
Volume:72
Issue / Number:6
Start Page:1401
End Page:1411
Review Status:not specified
Audience:Experts Only
Abstract / Description:X-linked West syndrome, also called "X-linked infantile spasms" (ISSX), is characterized by early-onset generalized seizures, hypsarrhythmia, and mental retardation. Recently, we have shown that the majority of the X-linked families with infantile spasms carry mutations in the aristaless-related homeobox gene (ARX), which maps to the Xp21.3-p22.1 interval, and that the clinical picture in these patients can vary from mild mental retardation to severe ISSX with additional neurological abnormalities. Here, we report a study of two severely affected female patients with apparently de novo balanced X;autosome translocations, both disrupting the serine-threonine kinase 9 (STK9) gene, which maps distal to ARX in the Xp22.3 region. We show that STK9 is subject to X-inactivation in normal female somatic cells and is functionally absent in the two patients, because of preferential inactivation of the normal X. Disruption of the same gene in two unrelated patients who have identical phenotypes (consisting of early-onset severe infantile spasms, profound global developmental arrest, hypsarrhythmia, and severe mental retardation) strongly suggests that lack of functional STK9 protein causes severe ISSX and that STK9 is a second X-chromosomal locus for this disorder.
Comment of the Author/Creator:Date: 2003, Jun
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Max Planck Inst Mol Genet, D-14195 Berlin, Germany.; Womens & Childrens Hosp, Dept Cytogenet & Mol Genet, Adelaide, SA, Australia.; Womens & Childrens Hosp, Dept Neurol, Adelaide, SA, Australia.; Womens & Childrens Hosp, S Australian Clin Genet Serv, Adelaide, SA, Australia.; Univ Adelaide, Dept Pediat, Adelaide, SA, Australia.; Inst Human Genet, Lubeck, Germany.; Univ Copenhagen, Panum Inst, Wilhelm Johannsen Ctr Funct Genome Res, Inst Med Biochem & Genet, DK-2200 Copenhagen, Denmark.
Identifiers:ISI:000183275500004 [ID No:1]
ISSN:0002-9297 [ID No:2]
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