Mutation Details for c.3618delA

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

cDNA Name c.3618delA 
Protein Name p.Gly1208AlafsX3 
Exon or Intron  
Other Details  
Contributors and Institutes
Didem Dayangaç-Erden - Hacettepe University Faculty of Medicine, Department of Medical Biology, Ankara Turkey
Merve Atalay - Hacettepe University Faculty of Medicine, Department of Medical Biology, Ankara Turkey
Nagehan Emiralioğlu - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Mina Hızal - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Sanem Polat - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Uğur Özçelik - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Ebru Yalçın - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Deniz Doğru - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
Engin Yılmaz - Hacettepe University Faculty of Medicine, Department of Medical Biology, Ankara Turkey
Nural Kiper - Hacettepe University Faculty of Medicine, Department of Pediatric Pulmonology, Ankara, Turkey
  
Submitted Phenotype Details He has been diagnosed at 2 months with failure to thrive. He is homozygous for 3750delA. He has pancreatic insufficiency and taking pancreatic enzyme replasman treatment. Pseudobartter syndrome history was negative. He has severe lung involvement with bronchiectasis, severe obstructive lung function tests, recurrent hospitalizations. He is on the list of lung trasnplantation. He has osteoporosis, and hepatosteatosis. (Sweat test Cl: 110)  
Reference Dayangaç-Erden, D., Atalay, M., Emiralioğlu, N., Hızal, M., Polat, S., Özçelik, U., ... & Kiper, N. (2020). Mutations of the CFTR gene and novel variants in Turkish patients with cystic fibrosis: 24-years experience. Clinica Chimica Acta, 510, 252-259. 

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The Database was last updated at Apr 25, 2011