title: Mutation analysis of the ALD gene in seven Japanese families with X-linked adrenoleukodystrophy.
abstract: The childhood cerebral form of X-linked adrenoleukodystrophy (X-ALD) is a severe congenital metabolic disease without a definite effective therapy except for hematopoietic stem cell transplantation in the appropriate disease stage. Seven Japanese families with X-ALD were analyzed for mutations in the ALD gene ( ALD). Of the seven families, three were referred to us for prenatal diagnosis, four for carrier detection, and three for confirmation diagnosis of patients. By nucleotide sequencing and/or restriction analysis, all the subjects to be examined were successfully diagnosed. Six different missense mutations in ALD were identified. There was a G-->A substitution (G512S) in two unrelated families, and a G-->A (R617H), a C-->T (R660W), a G-->C (R163P), a C-->T (S606L), or a G-->A (G116E) substitution in each of the other five families. Among the six substitutions, five were those reported previously and the other was a novel mutation. In three families, prenatal diagnosis was carried out after genetic counseling.
authors.affiliation: Department of Nursing, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki 852-8520, Japan. pediatr@net.nagasaki-u.ac.jp
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Akira
authors.initials: A
authors.lastname: Tsuru
authors.forename: Nagisa
authors.initials: N
authors.lastname: Amamoto
authors.forename: Takashi
authors.initials: T
authors.lastname: Shimizu
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Kondoh
authors.forename: Nakamichi
authors.initials: N
authors.lastname: Saitoh
authors.forename: Tomomi
authors.initials: T
authors.lastname: Tsujii
authors.forename: Kimiko
authors.initials: K
authors.lastname: Tamagawa
mesh_terms: D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D020125:Mutation, Missense; D012732:Sex Determination Analysis