Mutation Details for c.4_53+69delins299
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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.4_53+69delins299
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Exon or Intron
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exon 1 - intron 1
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Legacy Exon or Intron
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exon 1 - intron 1
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CFTRdele1 or 136del119ins299
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Other Details
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The insertion/deletion was detected by semi-quantitative fluorescent multiplex PCR and further characterized by cloning and sequencing. It is the same as reported by Dork in 2002 (135del120ins300). It was further identified by Audrezet et al. (described in 2004 as CFTRdele1ins299bp) in another French CF patient, who is apparently unrelated to ours.
The anomaly is inherited from the father, who is from northeastern Italy.
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Contributors
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F. Niel, E. Girodon, V. Cusin#, A. Pennerath*, M. Goossens
2004-10-06
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France,
*Genetique medicale, Colmar, France,
# Genetique medicale, Dijon, France
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Submitted Phenotype Details
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The complex anomaly was identified in a 10 yrs old boy, diagnosed with CF at 1 month and heterozygous for F508del. He is PI and presents with a severe pulmonary phenotype. He has a positive ST (Cl-:114 mEq/l).
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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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