<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Cystic fibrosis (CF) is an autosomal recessive disease. The genetic transition occurs with CF transmembrane conductance regulator (<italic>CFTR</italic>) gene mutation. We aimed to determine the frequency of CF mutations and also new mutations in the <italic>CFTR</italic> 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 <italic>CFTR</italic> 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 <italic>CFTR</italic> gene analysis was normal in 16 neonates in the patient group, whereas in others: A46D (c.137C>A) (<italic>n</italic> = 1), D1312G (c.3935A>G) (<italic>n</italic> = 1), R117H (c.350G>A) (<italic>n</italic> = 1), S1426P (c.4276T>C) (<italic>n</italic> = 1) heterozygotes were detected; <italic>CFTR</italic> gene analysis was normal at 14 neonates in the control group, whereas in others: E1228G (c.3683A>G) (<italic>n</italic> = 1), E217G (c.650A>G) (<italic>n</italic> = 1), E632TfsX9 (c1894_1895delAG) (<italic>n</italic> = 1), I807M (c.2421 A>G) (<italic>n</italic> = 2), S573F (c.1718C>T) (<italic>n</italic> = 1) heterozygotes were detected. There was no significant difference in the patient and control groups’ <italic>CFTR</italic> gene analysis (<italic>p</italic> = 0.340). This study demonstrates the importance of <italic>CFTR</italic> gene analysis in asymptomatic newborn infants for follow-up and early diagnosis of <italic>CFTR</italic>-related disorders. In this study, a c.1894_1895delAG (E632TfsX9) heterozygous mutation detected in the <italic>CFTR</italic> gene in an asymptomatic newborn infant, was first encountered in the literature.</p>
</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.

Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems

Department of Pediatrics, Division of Neonatology

Manisa Celal Bayar University Medical School

Department of Pediatrics, Division of Pediatric Neurology

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Cystic fibrosis (CF) is an autosomal recessive disease. The genetic transition occurs with CF transmembrane conductance regulator (CFTR) gene mutation. We...

Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems

Article Category: Original Article

Online veröffentlicht: 05. Juni 2022

Seitenbereich: 25 - 31

DOI: https://doi.org/10.2478/bjmg-2021-0023

Schlüsselwörter
Cystic fibrosis (CF), Cystric fibrosis trans-membrane conductance regulator () gene, Mutation, Newborn

© 2021 S Tanriverdi et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems

Article Category: Original Article

Online veröffentlicht: 05. Juni 2022

Seitenbereich: 25 - 31

DOI: https://doi.org/10.2478/bjmg-2021-0023

SchlüsselwörterCystic fibrosis (CF), Cystric fibrosis trans-membrane conductance regulator () gene, Mutation, Newborn

© 2021 S Tanriverdi et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Schlüsselwörter
Cystic fibrosis (CF), Cystric fibrosis trans-membrane conductance regulator () gene, Mutation, Newborn