title: A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.
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.
authors.affiliation: Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland 97201.
authors.forename: M A
authors.initials: MA
authors.lastname: Whitney
authors.forename: H
authors.initials: H
authors.lastname: Saito
authors.forename: P M
authors.initials: PM
authors.lastname: Jakobs
authors.forename: R A
authors.initials: RA
authors.lastname: Gibson
authors.forename: R E
authors.initials: RE
authors.lastname: Moses
authors.forename: M
authors.initials: M
authors.lastname: Grompe
mesh_terms: D000483:Alleles; D001483:Base Sequence; D018797:Cell Cycle Proteins; D002460:Cell Line; D016384:Consensus Sequence; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005091:Exons; D005199:Fanconi Anemia / Q000208:ethnology / Q000235:genetics*; D052218:Fanconi Anemia Complementation Group C Protein; D051856:Fanconi Anemia Complementation Group Proteins; D005787:Gene Frequency; D005808:Genes, Recessive; D006801:Humans; D007585:Jews / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D012326:RNA Splicing; D012689:Sequence Homology, Nucleic Acid
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; C497651:FANCC protein, human; D052218:Fanconi Anemia Complementation Group C Protein; D051856:Fanconi Anemia Complementation Group Proteins; D009687:Nuclear Proteins; D011506:Proteins; D004247:DNA