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© 1993 Oxford University Press

OTHER

A nonsense mutation and exon skipping in the Fanconi anaemia group C gene

Rachel A. Gibson, Atieh Hajianpour, Manuela Murer-Orlando, Manuel Buchwald1 and Christopher G. Mathew*,

Division of Medical and Molecular Genetics, UMDS Guy's Hospital 8th floor Guy's Tower, London SE1 9RT, UK 1 Department of Genetics, The Hospital for Sick Children Toronto, Ontario M5G 1X8, Canada

* To whom correspondence should be addressed

Received March 23, 1993; Accepted April 16, 1993

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.


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