Summary
Four α-galactosidase gene mutations were identified in Japanese male patients with Fabry disease who had no detectable α-galactosidase activity. Two of them were novel mutations, an 11-bp deletion in exon 2 and a g−1 to t substitution at the 3′ end of the splice acceptor site in intron 1. The former caused a frameshift and led to the creation of a new stop codon at codon 118. The latter was predicted to provoke aberrant mRNA splicing followed by accelerated degradation of the mRNA. A nonsense mutation, R301X, and a 2-bp deletion starting at nucleotide position 718, which were reported previously, were also identified in unrelated patients.
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Okumiya, T., Takenaka, T., Ishii, S. et al. Two novel mutations in the α-galactosidase gene in Japanese classical hemizygotes with Fabry disease. Jap J Human Genet 41, 313–321 (1996). https://doi.org/10.1007/BF01913174
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DOI: https://doi.org/10.1007/BF01913174
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