Rachel A. Gibson, Atieh Hajianpour, Manuela Murer-Orlando, Manuel Buchwald, Christopher G. Mathew; A nonsense mutation and exon skipping in the Fanconi anaemia group C gene. Hum Mol Genet 1993; 2 (6): 797-799. doi: 10.1093/hmg/2.6.797
Fanconi anaemia (FA) is an autosomal recessive disorder associated with bone-marrow failure and hypersensitivity to DNA cross-linking agents. At least four complementation groups have been defined, and a cDNA which corrects the defect in group C cells (FACC) has recently been isolated. We have screened the FACC coding sequence for mutations in FA patients and found one patient to be homozygous for a nonsense mutation in exon 6 of the FACC coding sequence (R185X). Exon 6 was spliced out of a proportion of this patient's transcripts, providing further support for the proposal that nonsense mutations may alter splice site selection. Alternatively spliced transcripts which lacked exon 13 were detected in both patients and controls.