A NOVEL HUMAN CATALASE MUTATION (358-T-]DEL) CAUSING JAPANESE-TYPE ACATALASEMIA

Japanese-type acatalasemia is characterized by the almost total loss o f catalase activity in red cells and is often associated with ulcerati ng oral lesions, A splicing mutation in intron 4 of the catalase gene has so far been a sole disease-causing mutation found in Japanese-type acatalasemic patients, we report here a novel single base deletion in the catalase gene causing Japanese-type acatalasemia, The patient was a 72-year-old Japanese male, His maternal grandmother and his father were first cousins, Molecular analysis using non-RI PCR-SSCP analysis combined with direct sequencing revealed a deletion of the 358th thymi ne in exon 4 of the patient's catalase gene, The proband was a homozyg ote and his mother and his three children were heterozygotes for this mutation, The frame shift caused by the nucleotide deletion should alt er the downstream amino acid sequence and introduce a new termination codon TGA 43 bp 3' to the mutation, Although the truncated peptide cha in consisted of 133 amino acid residues might be translated in the pat ient's tissue, such an aberrant protein is expected to be extremely un stable and have no catalytic function at all, Our results suggest that Japanese-type acatalasemia is heterogeneous at molecular level.