Mutation Details for c.2989-977_3367+248del
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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.2989-977_3367+248del
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Exon or Intron
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exon 19 - exon 20
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Legacy Exon or Intron
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exon 17a - exon 17b
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3121-977_3499+248del2515
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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 long-range PCR and sequencing. The 3U breakpoint is located at the IVS17b(TA) microsatellite, leaving a stretch of 7(TA).
In 2 cases, the deletion is carried/transmitted by the fathers; in the other 2, by the mother. Three families are from Eastern France.
The deletion is linked to a common CFTR haplotype (IVS1(CA)-IVS8(CA)-IVS17b(CA)). The IVS17b(TA) site in included in the deletion.
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Contributors
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F. Niel, E. Girodon, M. Goossens submitted on 2004-01-21,
updated on 2004-10-06
2004-10-06
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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This deletion was first identified in a 20 yrs old female who was diagnosed with CF at 1 month and who was heterozygous for F508del. She has pulmonary symptoms and PI. Sweat chloride values were above 100 mEq/l.
The anomaly was identified in three other cases:
- in another 21 yrs old female diagnosed with typical CF in childhood and bearing F508del on the other chromosome;
- in the father of two deceased CF children.
- in a 35 yrs old CF patient diagnosed at 1 yr and bearing 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, 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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