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 journalArticle

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

Fingerprint

Fanconi Anemia
Mutation
Genes
Pancytopenia
RNA Splice Sites
Nonsense Codon
Heterozygote
Introns
Neoplasms

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Nakamura, A., Matsuura, S., Tauchi, H., Hanada, R., Ohashi, H., Hasegawa, 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

Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. / Nakamura, Asako; Matsuura, Shinya; Tauchi, Hiroshi; Hanada, Ryoji; Ohashi, Hirofumi; Hasegawa, Tomonobu; Honda, Koujiro; Masuno, Mitsuo; Imaizumi, Kiyoshi; Sugita, Katsuo; Ide, Toshinori; Komatsu, Kenshi.

In: Journal of Human Genetics, Vol. 44, No. 1, 1999, p. 48-51.

Research output: Contribution to journalArticle

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, vol. 44, no. 1, pp. 48-51. https://doi.org/10.1007/s100380050106
Nakamura, Asako ; Matsuura, Shinya ; Tauchi, Hiroshi ; Hanada, Ryoji ; Ohashi, Hirofumi ; Hasegawa, Tomonobu ; Honda, Koujiro ; Masuno, Mitsuo ; Imaizumi, Kiyoshi ; Sugita, Katsuo ; Ide, Toshinori ; Komatsu, Kenshi. / Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients. In: Journal of Human Genetics. 1999 ; Vol. 44, No. 1. pp. 48-51.
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