Kallmann syndrome gene (KAL-X) is not mutated in schizophrenia

Michael O'Neill, Warrick Brewer, Cathy Thornley, David Copolov, Garry Warne, Andrew Sinclair, Sue Forrest, Robert Williamson

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5 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)34-37
Number of pages4
JournalAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Issue number1
Publication statusPublished - 5 Feb 1999
Externally publishedYes


  • Anosmia
  • Hypogonadotropic hypogonadism
  • Kallmann syndrome
  • KSV model
  • Schizophrenia

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