Mutation Details for c.2620-674_3367+198del
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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.2620-674_3367+198del
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Exon or Intron
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exon 16 - exon 20
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Legacy Exon or Intron
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exon 14b - exon 17b
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2752-674_3499+198del9855
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Other Details
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The deletion was suspected because of an abnormal segregation of the IVS17b(TA) marker. It has been further confirmed by real-time quantitative PCR focused on exon 17b. The breakpoints have been characterized by long-range PCR and sequencing. The 3U one is located at the IVS17b(TA) microsatellite, leaving a stretch of 13(TA).
The deletion was inherited from the father who is from eastern France.
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Contributors
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F. Niel, E. Girodon, C. Costa, J. Martin, M.O. Peter*, M. Goossens
2004-10-06
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France;
*Paediatrics, Mulhouse, France
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Submitted Phenotype Details
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The deletion was identified in a 13 yrs old girl who was diagnosed with CF at 4 and who is heterozygous for F508del. She presented a classical form with pulmonary symptoms, nasal polyposis and PI. Her pulmonary disease is being attenuated.
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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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