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A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree.
Mol. Psychiatry 6, 302-306 (2001)
Schizophrenia is a common and etiologically heterogeneous disorder. Although inheritance of schizophrenic syndromes is complex with genetic and environmental factors contributing to the clinical phenotype, periodic catatonia, a familial subtype of catatonic schizophrenia, appears to be transmitted in an autosomal dominant manner. We report here that a Leu309Met mutation in WKL1, a positional candidate gene on chromosome 22q13.33 encoding a putative non-selective cation channel expressed exclusively in brain, co-segregates with periodic catatonia in an extended pedigree. Structural analyses revealed that this missense mutation results in conformational changes of the mutant protein. Our results not only underscore the importance of genetic mechanisms in the etiology of schizophrenic syndromes, but also provide a better understanding of the pathogenesis and incapacitating course of catatonic schizophrenia and related disorders.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
schizophrenia; genetics; 22q13.33; mutation; cation channel; heterogeneity; METHIONINE OXIDATION; PERIODIC CATATONIA; KCNA1 MUTATIONS; DISORDERS; FAMILIES
ISSN (print) / ISBN
1359-4184
e-ISSN
1476-5578
Zeitschrift
Molecular Psychiatry
Quellenangaben
Band: 6,
Heft: 3,
Seiten: 302-306
Verlag
Springer
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)