Mutation Details for c.33281_3367+268del355insTGTTAA
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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.33281_3367+268del355insTGTTAA
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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3413del355_insTGTTAA
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Other Details
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The deletion was detected using semi-quantitative fluorescent multiplex PCR and the deletion junctions were subsequently characterized by sequencing.
The deletion includes the IVS17b(TA) site but not the IVS17b(CA).
It is inherited from the mother who is from northern France.
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Contributors
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F. Niel, E. Girodon, I. Sermet*, M. Goossens
2004-10-06
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France;
* Paediatrics, hopital Necker-Enfants-Malades, Paris, France
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Submitted Phenotype Details
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The deletion was identified in a 10 yrs old boy who was diagnosed with CF at 1 year because of failure to thrive. He is PI, has lung colonization with Pseudomonas aeruginosa. His sweat test is clearly positive. He carries F508del on the other 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, Valerie 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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