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Turkish Journal of Medical Sciences

Author ORCID Identifier

YÜKSEL GEZGİN: 0000-0001-5812-1882

BERKAY KIRNAZ: 0000-0003-2913-5788

RAUF BAYLAROV: 0000-0002-5382-7429

AFİG BERDELİ: 0000-0002-4791-8367

DOI

10.55730/1300-0144.5892

Abstract

Background/aim: Autosomal Recessive Polycystic Kidney Disease is an inherited kidney disease. This study aims to detect rare and common DNA variants of the PKHD1 gene using Next-Generation Sequencing and to classify them as pathogenic.Materials and methods: NGS analysis was performed from the DNA of 304 patients who were referred to Ege University Molecular Medicine Laboratory with the suspicion of Polycystic Kidney disease.Results: As a result, a total of 82 different DNA variants, 16 of which were novel, were detected, of which 73 (89.02%) were Missense variants, 6 (7.32%) Nonsense variants, 2 (2,44 %) Frameshift deletion, and 1 (1.22%) nonframeshift deletion. According to The American College of Medical Genetics and Genomics classification of these variants, 26 were Benign (Class 5), 2 were Likely Benign (Class 4), 36 were Uncertain Significance (Class 3), and 9 were Likely Pathogenic (Class 2), 9 of which are Pathogenic variants (Class 1). Heterozygous in 39 (63.9 %) patients, homozygous in 6 (9.8%) patients, compound heterozygous in 12 (19.7%) patients, and compound heterozygous in 4 (6.6%) patients in which variants in Class 1, Class 2 and Class 3 were determined according to ACMG classification. When the exon distributions of the DNA variants detected in the PKHD1 gene, the most common exons of the DNA variant are exon 32 (n=9), exon 58 (n=8), exon 67 (n=6), exon 61 (n=5), 30 exons (n=4).Conclusion: This fast and economical molecular diagnostic approach will provide an adequate prenatal diagnosis opportunity in making the definitive diagnosis of the disease and determining the carriers of the disease.

Keywords

Autosomal recessive polycystic kidney disease, PKHD1 gene, next generation sequencing, missense variant, prenatal diagnosis

First Page

1135

Last Page

1146

Creative Commons License

Creative Commons Attribution 4.0 International License
This work is licensed under a Creative Commons Attribution 4.0 International License.

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