Abstract:

Objective: It is known that the number of diseases associated with autosomal recessive inheritance pattern is increasing in our country where consanguineous marriages (including within the same village/region) are high. In this study, we aimed to evaluate the carrier rate of Phenylketonuria, Biotinidase Deficiency and Cystic Fibrosis by evaluating the next generation sequencing (NGS) data collected. Methods: The data of 279 cases who underwent NGS between March 2021 and April 2022 for different clinical indications were investigated retrospectively. Cases with pathogenic variants in PAH, BTD, and CFTR genes were figured out as carriers. Results: In this study, pathogenic variants were found in the PAH gene in 9, BTD gene in 23 and CFTR genes in 14 of a total of 279 individuals. Additionally, 2 people had pathogenic variants in both the BTD and the PAH genes. The carrier rates for phenylketonuria, biotinidase deficiency and cystic fibrosis were 3.2%, 8.2%, and 5%, respectively. Conclusion: These results suggest that carrier rate of Phenylketonuria, Biotinidase Deficiency, and Cystic fibrosis may be significantly high in our country. Carrier screening is very important in diseases with high carrier rates. When both couples are known to be carriers, prenatal or pre-implantation genetic diagnosis testing options can be offered.

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