Mutation Details for c.4243_4244insCTGT

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

cDNA Name c.4243_4244insCTGT 
Protein Name p.Val1415AlafsX48 
Exon or Intron  
Other Details The mutation was detected by exon and intron-exon border sequencing in a girl aged of 11 months of Algerien parents. No abnormality was detected by the MLPA method. The mutant sequence was found together with a c.1521_1523delCTT (p.Phe508del) mutation. 
Contributors and Institutes
Xavier Pepermans - Center for Human Genetics, Université Catholique de Louvain (UCL), Brussels, Belgium
Patrick Lebecque - Pediatric Pulmonology & Cystic Fibrosis Unit, Cliniques Universitaires St Luc, UCL, Brussels, Belgium
Mélanie Vast - Center for Human Genetics, UCL, Brussels, Belgium
Teresinha Leal - Institut de Recherche Expérimentale et Clinique, UCL, Brussels, Belgium
Submitted Phenotype Details Hypotonic dehydration and metabolic alkalosis, repeated episodes of asthmatic bronchitis (at ages of 3, 5 and 8 months), gastroesophageal reflux, pancreatic insufficiency with reduced faecal elastase (9 µg/g stool), and elevated sweat chloride (100 mMol/L).  

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011