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

Asako Nakamura, Shinya Matsuura, Hiroshi Tauchi, Ryoji Hanada, Hirofumi Ohashi, Tomonobu Hasegawa, Koujiro Honda, Mitsuo Masuno, Kiyoshi Imaizumi, Katsuo Sugita, Toshinori Ide, Kenshi Komatsu

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)48-51
Number of pages4
JournalJournal of Human Genetics
Issue number1
Publication statusPublished - 1999


  • Direct sequencing
  • FAA gene
  • Fanconi anemia
  • Mutation
  • Polymorphism
  • SSCP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of 'Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients'. Together they form a unique fingerprint.

Cite this