Discovery of a schizophrenia gene

A genetic variant in a putative ion channel gene co-segregates with inherited catatonic schizophrenia in an extensive pedigree.

Tudor Toma(ttoma@mail.dntis.ro)
Mar 20, 2001

Inherited catatonic schizophrenia (ICS) is characterised by acute psychotic episodes with hallucinations, delusions and disturbed body movements. In the latest issue of Molecular Psychiatry, Meyer et al report the identification of a mutation in a putative ion channel gene as the cause of this type of familial schizophrenia.

Jobst Meyer and colleagues from Julius-Maximilians-University, Wuerzburg, Germany, used PCR to screen the genes on human chromosome 22 in a large family with ICS. The authors found a mutation that co-segregates with ICS, in a gene that encodes a protein called WKL1 (Mol Psychiatry 2001, 6:302-306).

WKL1 shares some features with ion channels and the transcript is expressed exclusively in the brain. In the mutated form of WKL1, a leucine amino acid residue is replaced by a methionine (L309M) within one of seven transmembrane domains. Mutations in the potassium channel KCNA1, which is distantly related to WKL1, cause episodic...

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