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Type: Journal article
Title: Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation
Author: Kalscheuer, V.
Tao, J.
Donnelly, A.
Hollway, G.
Schwinger, E.
Kubart, S.
Menzel, C.
Hoeltzenbein, M.
Tommerup, N.
Eyre, H.
Harbord, M.
Haan, E.
Sutherland, G.
Ropers, H.
Gecz, J.
Citation: American Journal of Human Genetics, 2003; 72(6):1401-1411
Publisher: Univ Chicago Press
Issue Date: 2003
ISSN: 0002-9297
1537-6605
Abstract: 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.
Keywords: Chromosomes, Human, Pair 7; Humans; Spasms, Infantile; Genetic Diseases, X-Linked; Translocation, Genetic; Protein-Serine-Threonine Kinases; Chromosome Mapping; Developmental Disabilities; Base Sequence; Genes, Homeobox; Molecular Sequence Data; Infant; Dosage Compensation, Genetic; Female; Intellectual Disability
RMID: 0020030599
DOI: 10.1086/375538
Appears in Collections:Paediatrics publications

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