The Turkish Journal of Pediatrics
2008 , Vol 50 , Num 4
Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype
1 Departments of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey2 Departments of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey
3 Laboratoire de Biologie Moléculaire, Chu-Ubo Brest, Brest, Cedex, France Yalçın E, Özçelik U, Yılmaz E, Doğru D, Kiper N, Ferec C. Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype. Turk J Pediatr 2008; 50: 383-385.
We report a 16-year-old boy with cystic fibrosis presenting with meconium ileus in the neonatal period who showed mild clinical phenotype later. He had sufficient pancreatic function, mild lung involvement and borderline sweat chloride levels. Analysis of the cystic fibrosis transmembrane regulator protein gene revealed the rare mutation: 2183AA-G/D1152H. To our knowledge, this is the first report concerning such a mutation combination in cystic fibrosis.
Keywords : cystic fibrosis, mutation, phenotype, 2183AA-G/D1152H