Mutation Details for c.4243_4244insCTGT
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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.4243_4244insCTGT
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Protein Name
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p.Val1415AlafsX48
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Exon or Intron
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Other Details
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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.
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Contributors and Institutes
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| 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 |
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Submitted Phenotype Details
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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).
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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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