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Published on: April 11, 2018
Clinical Course of a Child With Cystic Fibrosis and the Genotype F508del/CFTRdup1_11: A Case Report
Argyri Petrocheilou1, Maria Tzetis2, Ioanna Loukou1
1Cystic Fibrosis Department, Agia Sofia Children's Hospital, Athens, GRC.
Insights
Genetic complexity in cystic fibrosis (CF) is highlighted by a case with a novel CFTRdup1_11 mutation. This genetic finding challenges phenotype prediction, showing a milder clinical course than expected for CF patients.
Area of Science:
- Genetics
- Pediatrics
- Medical Research
Background:
- Cystic Fibrosis (CF) exhibits significant genetic complexity, where specific mutations do not always correlate with disease severity or phenotype.
- The F508del mutation is a common cause of CF, but rare variants like duplications add layers of complexity to genetic diagnosis and prognosis.
Abstract:
Cystic fibrosis (CF) is a hereditary disease with great genetic complexity as not all mutations are disease-causing and genotype doesn't always predict phenotype. This case involves a child with CF and genotype F508del/CFTRdup1_11. The CFTRdup1_11 duplication was not reported previously, and genetic counseling was based on reports describing the clinical course of people carrying smaller duplications of the same area combined with F508del. The predicted clinical presentation was CF with pancreatic insufficiency. However, the case presented has so far shown no clinical symptoms and has borderline sweat chloride concentrations.
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