Geographic Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutations in Saudi Arabia

ConclusionThe eastern and the northern provinces have the highest prevalence of CF, with the c.2988+1G>A (3120+1G>A) and c.1418delG (p.Gly473GlufsX54) variants showing the highest distribution in the Saudi CF population, which may reflect the effect of consanguinity within the same tribe. Proper family screening and counseling should be emphasized.
Source: International Journal of Pediatrics and Adolescent Medicine - Category: Pediatrics Source Type: research