Kallmann syndrome and schizophrenia share several clinical features, includ
ing dysfunctional olfactory ability, hypogonadotrophic hypogonadism, an exc
ess of affected males, and psychiatric presentation. Because of this congru
ence, it has been proposed that up to 70% of male schizophrenics might have
mutations affecting the function or expression of the gene mutated in Kall
mann syndrome, KAL-X, We identified and studied 9 unrelated males with schi
zophrenia (as defined by DSM-IIIR criteria) who also have severe anosmia (f
irst percentile of normal range) and low sex drive (seventh percentile of t
he 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 schizo
phrenia is rarely, if ever, due to a mutation in the coding sequence or spl
ice junctions of KAL-X. Am, J, Med. Genet. (Neuropsychiatr, Genet.) 88:34-3
7, 1999. (C) 1999 Wiley-Liss, Inc.