Mutation Details for c.(?_165)_(1584_?)del(?_1620)_(2988_?)del
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.(?_165)_(1584_?)del(?_1620)_(2988_?)del
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Exon or Intron
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exon 3 - exon 18
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Legacy Exon or Intron
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exon 3 - exon 16
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CFTRdele3-10,14b-16
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Other Details
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The deletion was detected by semi-quantitative fluorescent multiplex PCR. The characterization of its breakpoints is being processed.
The deletion was inherited from the mother who has Britain and Kabyly origins. The deletion is in cis with V754M. It has not been detected in the CF patient compound heterozygous G542X/V754M, whose case has been described by A.Wallace.
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Contributors
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F. Niel, E. Girodon, T. Bienvenu*, M. Goossens
2004-10-06
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France,
*Biochimie-Genetique, hopital Cochin, Paris, France
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Submitted Phenotype Details
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The deletion was identified in a 15 yrs old girl who has classical CF with predominant pulmonary symptoms and mild PI and who is heterozygous for 1812-1G>A. The sweat chloride values were very high (300 mEq/l).
The complex deletion was later identified in another French CF patient who also carries V754M on the same chromosome.
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Reference
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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, Valrie DELATTRE, Michel GOOSSENS, Emmanuelle GIRODON. J Med Genet (in press)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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