Mutation Details for c.1709T>A
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.1709T>A
|
|
Protein Name
|
p.Leu570X
|
|
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
|
She has been diagnosed at 4 months with failure to thrive. She carries F508del mutation on the other allel. She has pancreatic insufficiency and taking pancreatic enzyme replasman treatment. Pseudobartter syndrome history was positive. She has lung involvement with bronchiectasis. Lung function test: FEV1: %75 FVC: %79 FEV1/FVC: 81 FEF25-75: %68 (Sweat test Cl>60)
|
|
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.
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
