Mutation Details for c.2958_2961delTCTG
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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.2958_2961delTCTG
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Protein Name
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p.Pro988LeufsX11
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Exon or Intron
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Other Details
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Contributors and Institutes
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| 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 |
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Submitted Phenotype Details
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He has been diagnosed at 3 months old, with lung infections. He carries F508del on the other allel. He has pancreatic insufficiency and taking pancreatic enzyme replasman treatment.
Abdominal ultrasound revealed liver parenchymal heterogenity and taking ursodeoxycholic acide. Pseudobartter syndrome history was negative. Nasal poliposis was positive He has osteopenia. He had history of ABPA, he has chronic P. aeruginosa colonization. He has severe lung involvement with severe bronchiectasis, and needs continuous oxygen treatment.
He has recurrent hospitalizations due to pulmonary exacerbations. Lung function test: FEV1: %34 FVC: %59 FEV1/FVC: %48. Lung transplantation has been decided at his last visit. (Sweat test Cl:152 mEq/lt)
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Reference
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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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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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