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A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews

Nature Genetics volume 4, pages 202–205 (1993)Cite this article

Abstract

Fanconi anaemia is an autosomal recessive disease for which four known complementation groups exist. Recently, the gene defective in complementation group C (FACC) has been cloned. In order to determine the fraction of Fanconi anaemia caused by FACC mutations, we used reverse transcription PCR and chemical mismatch cleavage (CMC) to examine the FACC cDNA in 17 FA cell lines. 4/17 patients (23.5%) had mutations in this gene. Two Ashkenazi–Jewish individuals were homozygous for an identical splice mutation. Three additional Jewish patients bearing this allele were found upon screening 21 other families. We conclude that a common mutation in FACC accounts for the majority of Fanconi anaemia in Ashkenazi–Jewish families.

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Authors and Affiliations

  1. Department of Molecular and Medical Genetics, Oregon Health Sciences University, 3181 Sam Jackson Park Road, L 103, Portland, Oregon, 97201, USA

    Michael A. Whitney, Hiroshi Saito, Petra M. Jakobs, Robb E. Moses & Markus Grompe

  2. Division of Medical and Molecular Genetics, UMDS Guy's Hospital, 8th floor Guy's Tower, London, SE1 9RT, UK

    Rachel A. Gibson

  3. Department of Pediatrics, Oregon Health Sciences University, 3181 Sam Jackson Park Road, L 103, Portland, Oregon, 97201, USA

    Markus Grompe

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  1. Michael A. Whitney
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  2. Hiroshi Saito
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  4. Rachel A. Gibson
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  5. Robb E. Moses
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  6. Markus Grompe
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Whitney, M., Saito, H., Jakobs, P. et al. A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews. Nat Genet 4, 202–205 (1993). https://doi.org/10.1038/ng0693-202

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