Mutation Details for c.3963+2T>A
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cDNA Name
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c.3963+2T>A
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Exon or Intron
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intron 24
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Legacy Exon or Intron
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intron 21
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4095+2T->A
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Other Details
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This mutation was identified in one CF patient carrying the deltaF508 mutation on the other chromosome. No other mutation was detected after a wide CFTR gene mutation screening (27 exons and intronic boundaries) by DHPLC methodology
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Contributors
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Bieth E., Gaston V., Assouline C.
2003-05-02
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Institute
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Laboratoire de GŽnŽtique MŽdicale; H™pital Purpan; CHU de Toulouse (France)
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Submitted Phenotype Details
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The mutation was found in a fetus referred at 26 weeks of gestation for echogenic bowel and dilated loops of bowel. The father of this fetus had a Spanish first cousin who died of cystic fibrosis (undetermined genotype). The deltaF508 mutation was initially identified on the maternal allele while paternal DNA studies were negative for the 30 common mutations. The pregnancy was terminated based on Bayesian calculations of the risk of cystic fibrosis. Necropsy revealed bowel obstruction and typical pancreatic abnormalities, establishing the diagnosis of CF in the fetus. Additional mutation screening identified the 4095+2T>A in paternal and fetal DNA.
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Reference
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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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