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[Two cases of cystic fibrosis in Japanese/German twins]
1First Department of Internal Medicine, Kagawa Medical University, Japan.
Insights
This study details twins with cystic fibrosis (CF) and unique genetic mutations. Their mixed parentage and specific CFTR gene variations offer insights into CF inheritance and presentation.
Area of Science:
- Genetics
- Pediatrics
- Pulmonology
Background:
- Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
- Early diagnosis and management are crucial for CF patients.
- Genetic heterogeneity in CF can influence disease presentation.
Observation:
- A case study of twins with cystic fibrosis (CF) from mixed parentage (Japanese mother, German father).
- One twin presented with meconium ileus neonatally; the other developed pulmonary aspergillosis at age 6.
- Both twins received standard CF therapies, including enzyme replacement, vitamins, antibiotics, inhaled DNase, and IV antibiotics.
Findings:
- Genetic screening identified the delta F508 mutation in the twins.
- Analysis revealed additional missense mutations (R347H at exon 7, D979A at exon 16) in the twins' CFTR genes.
- These same missense mutations were also present in the Japanese mother and maternal grandmother.
Implications:
- Highlights the complex inheritance patterns of cystic fibrosis.
- Suggests that compound heterozygosity for CFTR mutations may influence clinical phenotype.
- Underscores the importance of comprehensive genetic analysis in diverse populations for understanding CF.
Abstract:
We report a case of twins with cystic fibrosis. The twins are of mixed parentage, having a Japanese mother and a German father. One case presented with meconium ileus as a neonate. The other twin was relatively healthy until the age of 6, when she was first hospitalized with a diagnosis of pulmonary aspergillosis. They have been receiving standard therapies in the United States, including digestive enzymes, vitamins, and periodic antibiotics. At the age of 19 both patients received home intravenous antibiotic therapy, and began to use an inhaled DNase at the age of 20. When the patients were 19 they were screened for the common mutations causing cystic fibrosis, and the delta F508 CFTR mutation was identified. We analyzed their CFTR genes, as well as those of their Japanese mother and grandmother. Missense mutations at exon 7 (R347H) and exon 16 were found (D979A) in the twins and in their Japanese mother.