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

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10 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)48-51
Number of pages4
JournalJournal of Human Genetics
Volume44
Issue number1
DOIs
Publication statusPublished - 1999 Jan 1

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Nakamura, A., Matsuura, S., Tauchi, H., Hanada, R., Ohashi, H., Hasegawa, T., Honda, K., Masuno, M., Imaizumi, K., Sugita, K., Ide, T., & Komatsu, K. (1999). Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. Journal of Human Genetics, 44(1), 48-51. https://doi.org/10.1007/s100380050106