Genetic Variant Analysis in 10 Patients with Polycystic Kidney Disease

Zaihui ZHANG; YuanYuan LÜ; Zhihong WANG

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Zaihui ZHANG, YuanYuan LÜ, Zhihong WANG. Genetic Variant Analysis in 10 Patients with Polycystic Kidney Disease[J]. Journal of Kunming Medical University.

Citation:

Zaihui ZHANG, YuanYuan LÜ, Zhihong WANG. Genetic Variant Analysis in 10 Patients with Polycystic Kidney Disease[J]. Journal of Kunming Medical University.

Zaihui ZHANG, YuanYuan LÜ, Zhihong WANG. Genetic Variant Analysis in 10 Patients with Polycystic Kidney Disease[J]. Journal of Kunming Medical University.

Citation:

Zaihui ZHANG, YuanYuan LÜ, Zhihong WANG. Genetic Variant Analysis in 10 Patients with Polycystic Kidney Disease[J]. Journal of Kunming Medical University.

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Genetic Variant Analysis in 10 Patients with Polycystic Kidney Disease

Zaihui ZHANG^{1, 2},
YuanYuan LÜ^{1, 3},
Zhihong WANG^{1, 3
,
,}

1.
Center for Medical Genetics，Laboratory of Basic Medicine，Fuzong Clinical College，Fujian Medical University/900th Hospital of PLA Joint Logistic Support Force，Fuzhou Fujian 350025
2.
Central laboratory，Fuqing City Hospital Affiliatedto Fujian Medical University/Fuqing City Hospitalof Fujian，Fuzhou Fujian 350300
3.
Fujian Provincial Key Laboratory of Transplant Biology，Fuzhou Fujian 350025，China

Received Date: 2025-12-31
Available Online: 2026-06-11

Abstract

Abstract

Objective To identify the pathogenic gene variants in ten polycystic kidney disease （PKD）pedigrees, to clarify the molecular diagnosis of the probands and other family members. Methods Clinical data of 10 PKD pedigrees was collected, genomic DNA was extracted from peripheral blood samples of the probands and family members, and sequenced by next generation sequencing （NGS）, candidate variants wereanalyzed by bioinformatics and confirmed by Sanger sequencing. Results A total of 8 PKD1 variants and 3 PKD2 variants and 2 PKHD1 variants were found in the 10 pedigrees. Among these, PKD1: c.3416_3417delTG, c.10264_10265insTCGG, c.10762T>C and PKD2: c.602delG, c.1548G>C variants have not been reported in HGMD database, ClinVar database or previous literature.According to the American College of Medical Genetics and Genomics （ACMG） standards and guidelines for the interpretation of sequence variants, PKD1: c.3416_3417delTG, c.10264_10265insTCGG and PKD2: c.602delG were classified as likely pathogenic （LP）, PKD1: c.10762T>C and PKD2: c.1548 G>C were classified as variantsof uncertain significance （VUS）. Conclusion In this study, the cause of PKD in 10 pedigrees was identified by molecular diagnosis, and three novel PKD1gene variants and two novel PKD2 gene variants were reported for the first time, which expanded the mutation spectrum of PKD.
- Polycystic kidney disease,
- Molecular diagnosis,
- Next-generationsequencing,
- Sanger sequencing

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References(21)

References

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