Cystic fibrosis in Uruguay

Abstract

We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electrolyte measurements (25%). Mutational analysis of CF chromosomes demonstrated a relatively low incidence of the ∆F508 allele (40%) and a large number of other cystic fibrosis conductance regulator mutations, with an overall detection rate of about 71%. Fifteen different mutations were detected in our patients: ∆F508,

CFTR gene analysis in Latin American CF patients: Heterogeneous origin and distribution of mutations across the continent

“…As shown in Table 4, 19 of them have overall frequencies of 0.1% to 1% in Latin America and could be considered as rare, but some of them have local elevated frequencies, like c.1811 + 1.6KbA N G in Colombia (from 4.2% to 10.5% in the different geographical regions studied) [14,46], p.G85E in Ecuador (8.9%) (Ruiz et al, personal communication), Uruguay (3.95%) [41], Brazil (2.33%) [15] and Argentina (2.26%) [18], p.R334W in Brazil (2.6%) [15,22] and p.I507del (2.58%) and p.S549N (2.5%) in Mexico [13] (Table 2). p.R1162X showed an overall frequency of 0.96% (Table 3), but with some regional elevated frequencies, like in Santa Catarina, Brazil, with a presence of 10.4% in the sample studied [15].…”

“…In Colombia, the second mutation is c.1811 + 1.6KbA N G, with a frequency of 5.5% (12/ 218 chromosomes) ( Table 2). The p.G85E mutation was found in several countries such as Argentina [ [12,18,19], Oller Ramirez, personal communication], Brazil [15,22], Ecuador (Cassiman, 2004, personal communication), Mexico [13] and Uruguay [41] with frequencies ranging from 0.36% in Mexico up to 3.95% in Uruguay. The frequency of the rest of the mutations varies from one country to another, and many are restricted to one or two countries only (Tables 2 4 and 5).…”

Genotype and phenotype correlations in diabetic patients in Uruguay

“…com). Allowing for possible dropouts and technical problems during follow-up, we recruited 338 individuals selected at random among unrelated patients from the major reference medical health institutions attending diabetes (Luzardo et al, 2002); the inclusion of public and private health centers allowed us to stratify the population according to socio-economic categories. We chose this strategy because our country has a unique admixed population composed of three ethnic groups (Cardoso et al, 2004;Gascue et al, 2005;Mimbacas et al, 2003Mimbacas et al, , 2004Mimbacas et al, , 2007.…”

Molecular Basis of Cystic Fibrosis in Lithuania: IncompleteCFTRMutation Detection by PCR-Based Screening Protocols

“…Although its effect on CFTR protein structure and function has not yet been investigated, recent evidence suggests that, even if it has been found to occur with a similar frequency in random healthy control donors as well as in affected subjects (Cohn et al 2005), R75Q might be reclassified as an uncommon mutation causing a variable phenotype. Indeed, it has been detected in CFTR alleles of idiopathic chronic pancreatitis patients, in a CF patient diagnosed late at 61 years of age, and in CFTR alleles from Uruguayan CF patients (Luzardo et al 2002;Gilljam and Bjorck 2004;Cohn et al 2005). Thus, it cannot be excluded that the R75Q mutation may contribute, in cooperation with other CFTR gene defects, to the CF phenotype.…”