Kallmann syndrome gene (KAL-X) is not mutated in schizophrenia.
Kallmann syndrome and schizophrenia share several clinical features, including dysfunctional olfactory ability, hypogonadotrophic hypogonadism, an excess of affected males, and psychiatric presentation. Because of this congruence, it has been proposed that up to 70% of male schizophrenics might have mutations affecting the function or expression of the gene mutated in Kallmann syndrome, KAL-X. We identified and studied 9 unrelated males with schizophrenia (as defined by DSM-IIIR criteria) who also have severe anosmia (first percentile of normal range) and low sex drive (seventh percentile of the normal range), and we sequenced the exons and the intron-exon junctions of the KAL-X gene for each. We found no mutations, and conclude that schizophrenia is rarely, if ever, due to a mutation in the coding sequence or splice junctions of KAL-X.
O'Neill
M
M
Department of Paediatrics and Centre for Hormone Research, University of Melbourne, Royal Children's Hospital, Victoria, Australia.
Brewer
W
W
Thornley
C
C
Copolov
D
D
Warne
G
G
Sinclair
A
A
Forrest
S
S
Williamson
R
R
D016326:Extracellular Matrix Proteins; D006801:Humans; D017436:Kallmann Syndrome / Q000235:genetics; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D000857:Olfaction Disorders / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic; D012559:Schizophrenia / Q000235:genetics*; D017422:Sequence Analysis, DNA; D012725:Sexual Behavior; D013739:Testosterone / Q000097:blood
C076266:ANOS1 protein, human; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins; D013739:Testosterone