title: Frequency ofde novomutations in Japanese patients with Fabry disease.
abstract: We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency ofde novomutations. In 5 of 74 families (6.8%), the probands had no positive family histories and were diagnosed asde novobecause their parents had no mutations in GLA gene. The parents of Fabry patients do not necessarily have mutations in GLA gene which is an important consideration in genetic counseling for FD.
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Masahisa
authors.initials: M
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Toya
authors.initials: T
authors.lastname: Ohashi
authors.affiliation: Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Sayoko
authors.initials: S
authors.lastname: Iizuka
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Eiko
authors.initials: E
authors.lastname: Kaneshiro
authors.affiliation: Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Higuchi
authors.affiliation: Advanced Clinical Research Center, Institute of Neurological Disorders, Kanagawa, Japan.
authors.forename: Yoshikatsu
authors.initials: Y
authors.lastname: Eto
authors.affiliation: Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Ida
keywords: Alpha-galactosidase A; De novo mutation; Fabry disease; Genetic counseling; Novel mutation; W340S