title: A novel mutation of the erythroid-specific delta-aminolaevulinate synthase gene in a patient with X-linked sideroblastic anaemia.
abstract: A novel missense mutation, A1754G, in exon 11 of the erythroid-specific delta-aminolaevulinate synthase gene (ALAS2) was identified in a Japanese male with sideroblastic anaemia. ALAS activity in bone marrow cells of the patient was reduced to 53.3% of the normal control. Consistent with this finding, activity of a bacterially expressed ALAS2 mutant protein harbouring this mutation was 19.5% compared with the normal control, but was increased up to 31.6% by the addition of pyridoxal 5'-phosphate (PLP) in vitro. RFLP analysis with Bsp HI restriction revealed that his mother was a carrier of the mutation. These findings suggest that A1754G mutation was inherited in this family in a manner consistent with X-linked inheritance, and is responsible for sideroblastic anaemia in the patient.
authors.affiliation: Tohoku University School of Medicine, Sendai, Japan; The Rockefeller University, New York, NY 10021-6399, USA.
authors.forename: H
authors.initials: H
authors.lastname: Harigae
authors.forename: K
authors.initials: K
authors.lastname: Furuyama
authors.forename: A
authors.initials: A
authors.lastname: Kimura
authors.forename: K
authors.initials: K
authors.lastname: Neriishi
authors.forename: N
authors.initials: N
authors.lastname: Tahara
authors.forename: M
authors.initials: M
authors.lastname: Kondo
authors.forename: N
authors.initials: N
authors.lastname: Hayashi
authors.forename: M
authors.initials: M
authors.lastname: Yamamoto
authors.forename: S
authors.initials: S
authors.lastname: Sassa
authors.forename: T
authors.initials: T
authors.lastname: Sasaki
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000235:genetics*; D000293:Adolescent; D000756:Anemia, Sideroblastic / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D000624:5-Aminolevulinate Synthetase