Geographic distribution of Cystic Fibrosis Transmembrane Regulator gene mutations in Saudi Arabia

Abstract

A descriptive study was undertaken to characterize cystic fibrosis transmembrane regulator (CFTR) gene mutations in the Saudi Arabian cystic fibrosis (CF) population in relation to their clinical picture, demographic features and ethnic origin. From October 1992 to September 1997, 70 patients (46 families) diagnosed with CF were screened for CFTR mutations. A total of 12 mutations were identified in 34 families (70% of the CF alleles in the study group). Most of the families were native Saudis, and in 88% of the families the parents were in consanguineous marriages. The most common Saudi mutations were 1548delG and I1234V. There was no significant difference in the clinical picture between patients of different ethnic origins with the same CFTR mutation.