Keywords
Children
Genetics
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Abstract
Objective: To describe the genetic profile of pediatric patients in a Maternal and Child Hospital. Methods: This is a descriptive cross-sectional study, an ongoing study arm with patients treated at the pediatric pulmonology outpatient clinic in a hospital in a city in the state of Maranhão, with data obtained from medical records included in the Brazilian Registry of Cystic Fibrosis (REBRAFC), from 1999 to 2021. Results: 11 variants were described in the sample. The c.1521_1523delCTT (F508del) variant occurred in 66.67% of patients. The c.1624G>T (G542X) variant had a frequency of 10.71% and 3120+1G>A was the third most frequent (7.14%). Rare variants were identified: c.1675G>A, c.3266G>A, c.613C>T, with similar frequencies (1.85%) and c.3874-1G>A with 3.70%. Three variants not yet described in the CFTR2 database were found: c.100_117del and c.2908G>A, with allele frequencies of 1.85% and the c.487delA variant with a frequency of 3.70%. Conclusion: The research, with a small sample and not representative of the state, identified the predominance of variants of European origin, confirming the population origin of Maranhão. Thus, it highlights the importance of knowing the genetic characteristics of patients, some carrying rare or undescribed variants, a fundamental condition for recommending therapy with CFTR modulators.
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