Congenital cyanotic cardiac diseases and R78W polymorphism frequency of CFC1 gene in patients with situs anomaly

SUMMARYCONGENİTAL CYANOTİC CARDIAC DISEASES AND R78WPOLYMORPHISM FREQUENCY OF CFC1 GENE IN PATIENTS WITH SITUSANOMALYINTRODUCTION AND PURPOSE: There is evidence that most congenitalcardiac anomalies are associated with failures during heart development or process ofdetermination of left-right axis. Association with a genetic defect can be detected in 8% ofcongenital heart anomalies. CFC1 gene, which belongs to EGF-CFC gene family, is a generesponsible for left-right axis. Also, mutation of CFC1 gene has been detected inindividuals with complex cardiac disease without heterotaxia (BAT and DORV). Thepurpose of this study is to determine the R78W polymorphism frequency of CFC1 gene incongenital cyanotic cardiac diseases and patients with dextrocardia and situs anomaly.METHOD: Hundred and seven patients with cyanotic congenital heart disease atthe age range of 0-16 years were included in the study. The diagnoses were confirmed byclinical and laboratory (ECG, chest x-ray, echocardiography, cardiac catheterisation)examinations. Age matched 100 normal children were included as controls. R78Wpolymorphism of CFC1 gene was evaluated using PCR with restriction analysis techniquein both groups.RESULTS: R78W polymorphism frequency of CFC1 gene could not be shown inpatient and control groups.DISCUSSİON: In this study, R78W polymorphism of CFC1 gene was not detectedin 207 events which include patient and control groups. This result is parallel to thefindings of the literature which indicates that this polymorphism is rare in caucasians andusually detected in African-Americans and Asians. As this mutation is rarely detected incongenital cardiac defects, it may not be directly related to the etiology of this diseasegroup. Following investigations with larger groups and/or meta-analysis of the previousstudies will bring solutions to this issue.Key words: CFC1 gene, heterotaxia, cryptic57