Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients

Fanconi anemia (FA) is an autosomal recessive disorder characterized by pan cytopenia, predisposition to cancers, and a diverse variety of congenital m alformations. At least eight complementation groups, A through H, have been described. Recently, the FA-A gene (FAA) has been isolated, and a large nu mber of distinct mutations reported in ethnically diverse FA-A patients. He re, 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 hetero zygote with a l-bp deletion and a single-base substitution. The second pati ent had a heterozygous 2-bp deletion, which introduces a premature terminat ion codon, and the third patient had a heterozygous splice donor site mutat ion in intron 27.