Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems
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2021
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Abstract
Cystic fibrosis (CF) is an autosomal recessive disease. The genetic transition occurs with CF transmembrane conductance regulator (CFTR) gene mutation. We aimed to determine the frequency of CF mutations and also new mutations in the CFTR gene in neonates with respiratory distress. Newborn babies hospitalized due to respiratory distress were included in the patient group. The control group consisted of infants who had no respiratory distress. The CFTR genes of both groups were analyzed using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. A total of 40 patients (20 in the patient group and 20 in the control group) were evaluated. The CFTR gene analysis was normal in 16 neonates in the patient group, whereas in others: A46D (c.137C>A) (n = 1), D1312G (c.3935A>G) (n = 1), R117H (c.350G>A) (n = 1), S1426P (c.4276T>C) (n = 1) heterozygotes were detected; CFTR gene analysis was normal at 14 neonates in the control group, whereas in others: E1228G (c.3683A>G) (n = 1), E217G (c.650A>G) (n = 1), E632TfsX9 (c1894_1895delAG) (n = 1), I807M (c.2421 A>G) (n = 2), S573F (c.1718C>T) (n = 1) heterozygotes were detected. There was no significant difference in the patient and control groups' CFTR gene analysis (p = 0.340). This study demonstrates the importance of CFTR gene analysis in asymptomatic newborn infants for follow-up and early diagnosis of CFTR-related disorders. In this study, a c.1894_1895delAG (E632TfsX9) heterozygous mutation detected in the CFTR gene in an asymptomatic newborn infant, was first encountered in the literature. © 2021 S Tanriverdi et al., published by Sciendo.
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bicarbonate , C reactive protein , cystic fibrosis transmembrane conductance regulator , lung surfactant , steroid , Apgar score , Article , artificial ventilation , asymptomatic disease , bicarbonate blood level , blood carbon dioxide tension , brain hemorrhage , capillary electrophoresis , clinical article , controlled study , coughing , crackle , cystic fibrosis , dehydration , demographics , DNA isolation , early diagnosis , exon , female , follow up , gene amplification , gene frequency , gene mutation , genetic analysis , gestational age , ground glass opacity , heterozygosity , hospitalized infant , human , hyperbilirubinemia , hypernatremic dehydration , intrauterine growth retardation , laboratory test , length of stay , lung auscultation , lung dysplasia , lung infiltrate , male , maternal age , metabolic acidosis , muscle hypotonia , mutation rate , neonatal intensive care unit , neonatal pneumonia , neonatal respiratory distress syndrome , newborn , newborn apnea , newborn sepsis , oxygen consumption , oxygen therapy , patent ductus arteriosus , platelet count , pneumonia , polymerase chain reaction , prematurity , pulmonary hypertension , restriction fragment length polymorphism , Sanger sequencing , sequence analysis , tachycardia , tachypnea , thrombocytopenia , wheezing