title: A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.
abstract: We identified a novel interstitial deletion that spanned from exons 5 to 10 of KAL1 in two Japanese brothers with X-linked Kallmann syndrome (KS; MIM no. 308700). Both brothers had hypogonadism, unilateral renal agenesis, and disturbance of the sense of smell, but they had no other neurological manifestations, including mental disturbance. Their mother was confirmed to be an asymptomatic carrier, by use of a comparative multiplex polymerase chain reaction (PCR) analysis. The present patients are further examples of patients with KS without mental disturbance caused by a mutation confined to KAL1.
authors.affiliation: Third Department of Internal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan. nanamon@grape.med.tottori-u.ac.jp
authors.forename: K
authors.initials: K
authors.lastname: Nagata
authors.forename: T
authors.initials: T
authors.lastname: Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Chikumi
authors.forename: T
authors.initials: T
authors.lastname: Ikeda
authors.forename: H
authors.initials: H
authors.lastname: Yamamoto
authors.forename: K
authors.initials: K
authors.lastname: Hashimoto
authors.forename: K
authors.initials: K
authors.lastname: Yoneda
authors.forename: E
authors.initials: E
authors.lastname: Nanba
authors.forename: H
authors.initials: H
authors.lastname: Ninomiya
authors.forename: K
authors.initials: K
authors.lastname: Ishitobi
mesh_terms: D000328:Adult; D001483:Base Sequence; D015815:Cell Adhesion Molecules / Q000235:genetics*; D005091:Exons; D016326:Extracellular Matrix Proteins; D006801:Humans; D017436:Kallmann Syndrome / Q000235:genetics*; D008297:Male; D009419:Nerve Tissue Proteins; D017384:Sequence Deletion
chemical_list: C076266:ANOS1 protein, human; D015815:Cell Adhesion Molecules; D016326:Extracellular Matrix Proteins; D009419:Nerve Tissue Proteins