Abstract
Fanconi anemia (FA) is an autosomal recessive disorder characterized by pancytopenia, predisposition to cancers, and a diverse variety of congenital malformations. At least eight complementation groups, A through H, have been described. Recently, the FA-A gene (FAA) has been isolated, and a large number of distinct mutations reported in ethnically diverse FA-A patients. Here, we report on the mutation analysis of five FA patients by single-strand conformation polymorphism. Out of five patients, at least three were found to have mutations in the FAA gene. The first patient was a compound heterozygote with a 1-bp deletion and a single-base substitution. The second patient had a heterozygous 2-bp deletion, which introduces a premature termination codon, and the third patient had a heterozygous splice donor site mutation in intron 27.
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Received: June 1, 1998 / Accepted: August 31, 1998
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Nakamura, A., Matsuura, S., Tauchi, H. et al. Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. J Hum Genet 44, 48–51 (1999). https://doi.org/10.1007/s100380050106
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DOI: https://doi.org/10.1007/s100380050106
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