Cystic fibrosis in a boy with meconium ileus and mild clinical phenotype associated with 2183AA-G/D1152H genotype

Yalcin E., Oezcelik U., YILMAZ E., DOĞRU ERSÖZ D., Kiper N., Ferec C.

TURKISH JOURNAL OF PEDIATRICS, vol.50, no.4, pp.383-385, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 4
  • Publication Date: 2008
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.383-385
  • Keywords: cystic fibrosis, mutation, phenotype, 2183AA-G/D1152H, MUTATIONS
  • Hacettepe University Affiliated: Yes

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.