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A novel mutation of the erythroid‐specific δ‐aminolaevulinate synthase gene in a patient with X‐linked sideroblastic anaemia
Author(s) -
Harigae Hideo,
Furuyama Kazumichi,
Kimura Akiro,
Neriishi Kazuo,
Tahara Nobuyasu,
Kondo Masao,
Hayashi Norio,
Yamamoto Masayuki,
Sassa Shigeru,
Sasaki Takeshi
Publication year - 1999
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.1999.01479.x
Subject(s) - sideroblastic anemia , missense mutation , mutation , mutant , gene , biology , exon , genetics , microbiology and biotechnology , bone marrow , immunology
A novel missense mutation, A1754G, in exon 11 of the erythroid‐specific δ‐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.