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Published on: April 11, 2018
First report of c. 1499G>C mutation in a 6-month-child with cystic fibrosis
Abbas Sahami1, Nourkhoda Sadeghifard2, Alireza Monsef3
1Department of Medical Genetic and Embryology, Faculty of Medicine, Ilam University of Medical Sciences, Ilam, Iran.
Insights
This case report details the first identification of the novel c.1499G>C mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in a young Iranian girl diagnosed with cystic fibrosis (CF). Further research into this mutation is recommended.
Area of Science:
- Genetics
- Pediatrics
- Medical Case Reports
Background:
- Over 1800 mutations have been identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
- Early diagnosis and genetic analysis are crucial for CF management.
Observation:
- A 6-month-old girl presented with weakness and meconium ileus, indicative of CF.
- Clinical signs included dark skin and bronchiectasis.
- Elevated sweat chloride (130-135 mmol/L) and sodium (125-128 mmol/L) levels confirmed CF diagnosis.
Findings:
- Genetic analysis revealed two CFTR mutations: p.F508del (ΔF508) and the novel c.1499G>C (cd500).
- The c.1499G>C (cd500) mutation is reported globally for the first time.
- This represents a significant addition to the known pathogenic variants of the CFTR gene.
Implications:
- This discovery expands the mutational landscape of cystic fibrosis.
- Further investigation of the c.1499G>C mutation is crucial for understanding its clinical impact.
- This finding underscores the importance of comprehensive genetic screening in CF diagnosis.
Abstract:
So far, more than 1800 mutations identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. In this case report, we presented first report of c. 1499G>C mutation in a 6-month-old girl with cystic fibrosis (CF) diagnosis. A 6-month-old girl with weakness and meconium Ileus referred to the pediatric clinic in Ilam, in the west of Iran. Patient's skin was dark and suffered from bronchiectasis. The sweat test was performed, and the concentration of chloride and sodium in patient's sweat was 130-135 mmol/L and 125-128 mmol/L, respectively. The exon 10 mutation analysis of a CF patient was performed. CFTR mutation analysis revealed the identification of 2 mutations in patient, the mutations were p.F508del (ΔF508) and c. 1499G>C (cd500), respectively. The mutation c. 1499G>C (cd500) were found for the first time in the world. Assessing this mutation in future study and genetic investigation is recommended.
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