9 Analysis of cystic fibrosis gene mutations in children with cystic fibrosis in a regional center in Eastern Romania

Abstract

Objective The purpose of this study was to describe the genetic mutations identified in patients of pediatric age with cystic fibrosis (CF) diagnosed in a cystic fibrosis center in north-eastern Romania. Methods We performed a retrospective study which included 37 children with CF, followed between December 2012 and December 2014. In the absence of neonatal screening, diagnosis was based on sweat test in patients who presented respiratory or digestive clinical manifestations. The 32 patients (21 boys and 11 girls) involved were performed genetic tests only to identify 38 mutations using Real time PCR method. Results Following the genetic tests performed, there were identified: homozygous (F508del – 11 patients, G542X – 1 patient, 1898 + 1G>A – 1 patient), heterozygous compounds (F508del/G542X – 4 patients, F508del 7T/9T – 2 patients, F508del 9T/9T – 4 patients, D1152H 7T/7T – 1 patient) and other types of mutations 7T/7T – 8 patients. F508del mutation frequency was 65.62% in the study group. F508del mutation was associated with mixed forms (digestive and pulmonary) of CF in 13 patients and with pulmonary form of CF in 8 patients. Mutation 1898 + 1G>A was associated with a severe form of digestive disease and pulmonary of CF with unfavorable evolution. Conclusion F508del mutation frequency was similar compared to the frequency of this particular mutation in other European countries (70%). In Romania, it is necessary to introduce a genetic screening test for an early FC diagnosis and also for establishing the genetic profile of CF.