Mutation Details for c.(?_-1270)_(*1553_?)del

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.(?_-1270)_(*1553_?)del 
Exon or Intron exon 1 - exon 27 
Legacy Exon or Intron exon 1 - exon 24 
Legacy Name CFTRdele1-24 
Other Details The complete CFTR deletion was detected by semi-quantitative fluorescent multiplex PCR and was confirmed by fluorescent in situ hybridization with a CFTR cDNA probe. Further characterization of the deletion extent and breakpoints is being processed, as well as the inheritance of the anomaly. The patient is French. 
Contributors E. Girodon, F. Niel, C. Costa, M. Goossens submitted on 2004-01-21, F. Niel, E. Girodon, F.Dastot, V. Izard*, M. Goossens updated on 2004-10-06   2004-10-06
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France * Urology, Hopital de Bicetre, Le Kremlin Bicetre, France 
Submitted Phenotype Details The deletion was identified in a CBAVD patient whose phenotype is under detailed clinical investigation. He has the R117H-7T allele on the other chromosome. 
Reference Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis. Florence NIEL, Josiane MARTIN, Florence DASTOT-LE MOAL, Bruno COSTES, Brigitte BOISSIER, Valerie DELATTRE, Michel GOOSSENS, Emmanuelle GIRODON. J Med Genet (in press) 

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The Database was last updated at Apr 25, 2011