Mutation Details for c.53+9711_1393+2670del61634

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.53+9711_1393+2670del61634 
Exon or Intron exon 1 - intron 10 
Legacy Exon or Intron exon 1 - intron 9 
Legacy Name delEx2-9 
Other Details While the patient inherited the large deletion from her mother she inherited the nonsense mutation G542X from her father. Her parents originate both from Italy. 
Contributors Schneider Mircea (MD), Sabina Gallati   2006-06-26
Institute Division of Human Genetics Children?s University Hospital, Inselspital, Bern, Switzerland 
Submitted Phenotype Details 22 years old female CF patient, compound heterozygote for G524X/CFTRdele2-9. She was diagnosed of CF already in the first week after birth presenting meconium ileus. Sweat tests were twice positive. Recent data obtained from lung function tests revealed only mild lung disease (FEV1 89%, Tiffeneau 80%, RV 147%). Pancreas insufficiency. Nasal polypectomy in 1996. Additionally the patient shows a decreased glucose tolerance. 
Reference  

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The Database was last updated at Apr 25, 2011