Characterization of Ancestral Origin of Cystic Fibrosis of Patients with New Reported Mutations in CFTR

<jats:p>The incidence of cystic fibrosis (CF) and the frequency of the variants reported for CFTR depend on the population; furthermore, CF symptomatology is characterized by obstructive lung disease and pancreatic insufficiency among other symptoms, which are reliant on the individual's genotype. The Ecuadorian population is a mixture of Native Americans, Europeans, and Africans. That population admixture could be the reason for the new mutations reported in a previous study by Ruiz et al. (2019). A panel of 46 Ancestry Informative Markers was used to estimate the ancestral proportions of each available sample (12 samples in total). As a result, the Native American ancestry proportion was the most prevalent in almost all individuals, except for three patients from Guayaquil with the mutation [<jats:italic>c.757G>A:p.Gly253Arg</jats:italic>; <jats:italic>c.1352G>T:p.Gly451Val</jats:italic>] who had the highest European composition.</jats:p>