title: Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype.
abstract: 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.
authors.affiliation: Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Ebru
authors.initials: E
authors.lastname: Yalçin
authors.forename: Uğur
authors.initials: U
authors.lastname: Ozçelik
authors.forename: Engin
authors.initials: E
authors.lastname: Yilmaz
authors.forename: Deniz
authors.initials: D
authors.lastname: Doğru
authors.forename: Nural
authors.initials: N
authors.lastname: Kiper
authors.forename: Claude
authors.initials: C
authors.lastname: Ferec
mesh_terms: D000293:Adolescent; D003550:Cystic Fibrosis / Q000150:complications* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005838:Genotype; D006801:Humans; D045823:Ileus / Q000150:complications*; D007231:Infant, Newborn; D008297:Male; D008470:Meconium; D010641:Phenotype
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator