title: Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome.
abstract: Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. The KAL1 gene is responsible for the X-linked form of Kallmann syndrome. We analyzed the KAL1 gene in 19 Japanese patients with Kallmann syndrome, including 3 patients reported previously, using PCR-direct sequencing method. All of 19 patients were sporadic, except for 2 monozygotic twins. In this study, there were 3 kinds of mutations in the KAL1 gene. One of them was a novel mutation consisting of a G to A substitution in the acceptor site at the junction of intron 6/exon 7. None of the mutations have been reported in countries other than Japan. In male sporadic patients with Kallmann syndrome, the incidence of mutations in Japanese patients (14%: 2 of 14 cases) was slightly higher than that in patients in USA (8%). Also, we found 2 polymorphisms, which were always found together in 6 patients. The severity of hypogonadism was not related to the presence of mutations. Unilateral renal aplasia and mirror movement, which are frequently found in patients with the KAL1 gene mutation, were not related to the sites of mutations.
authors.affiliation: Department of Laboratory Medicine, Osaka University Graduate School of Medicine, Suita, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Izumi
authors.forename: K
authors.initials: K
authors.lastname: Tatsumi
authors.forename: S
authors.initials: S
authors.lastname: Okamoto
authors.forename: T
authors.initials: T
authors.lastname: Ogawa
authors.forename: A
authors.initials: A
authors.lastname: Hosokawa
authors.forename: T
authors.initials: T
authors.lastname: Matsuo
authors.forename: Y
authors.initials: Y
authors.lastname: Kato
authors.forename: H
authors.initials: H
authors.lastname: Fukui
authors.forename: N
authors.initials: N
authors.lastname: Amino
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D015815:Cell Adhesion Molecules / Q000235:genetics*; D005091:Exons; D016326:Extracellular Matrix Proteins; D005260:Female; D005787:Gene Frequency; D008040:Genetic Linkage; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D007438:Introns; D007564:Japan; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins; D000857:Olfaction Disorders / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D014430:Twins, Monozygotic; D014960:X Chromosome
chemical_list: C076266:ANOS1 protein, human; D015815:Cell Adhesion Molecules; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins