Mutation Details for c.1093_1094delCT
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cDNA Name
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c.1093_1094delCT
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Protein Name
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p.Leu365TrpfsX16
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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1221delCT
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Other Details
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WE have used DGGE and direct DNA sequencing to identify this 2 base pairs CT deletion situated between position 1221-1226 of exon 7. The child is four years old with a severe form of the disease. He had no meconium ileus at birth, is PI with a severe lung disease.
The CT deletion is carrying on a A haplotype, the other C haplotype carries a non identified mutation. The CT deletion creates a termination codon (TAA) downstream at codon position 364 + 16 of the mutated allele.
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Contributors
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Quere I,
Audrezet MP,
Mercier B,
Guillermit H,
Verlingue C,
Ferec C
1991-08-17
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The French CF patient (male, 15y) had no meconium ileus at birth, is PI, has severe lung disease and carries 1078delT on the other allelle.
(pers. corr. Ferec)
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Reference
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Férec et al. 1992
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