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Abstract: TH-PO656

Diverse Disease-Causing Genes in Clinical Diagnosed Autosomal Dominant Polycystic Kidney Disease in Taiwan

Session Information

Category: Genetic Diseases of the Kidney

  • 1001 Genetic Diseases of the Kidney: Cystic


  • Hwang, Daw-yang, Kaohsiung Medical University, Kaohsiung, Taiwan
  • Yu, Chih-Chuan, Kaohsiung Medical University Chung-Ho Memorial Hospital, Kaohsiung, Taiwan
  • Chang, Jer-Ming, Kaohsiung Medical University, Kaohsiung, Taiwan
  • Chiu, Yi-Wen, Kaohsiung Medical University, Kaohsiung, Taiwan

To study the disease-causing mutations of autosomal dominant polycystic kidney disease (ADPKD) in Taiwan; we examined a total of 10 genes related to kidney and liver cysts. We collected a total of 153 ADPKD families and 40 cystic kidney disease individuals. The diagnosis of ADPKD were established by clinical and image studies from nephrology investigators. The study was approved by the institutional review board of the Kaohsiung Medical University Hospital.


We examined our cohort by study the disease-causing genes of ADPKD (PKD1, PKD2, GANAB, and DNAJB11), ARPKD (PKHD1), and ADPLD (PRKCSH, ALG8, LRP5, SEC61B, and SEC63). Long-range PCR primers were designed for PKD1 exon1 to 33 and PKD2 genes to avoid the amplification of PKD1 pseudogenes. Primer pool 1 contained a total of 60 primer pairs for PKD1 exon 1 to 33 and the primer pool 2 contained 287 primer pairs for PKD1 exon 34-46 and other genes. Multiplex microfluidic PCR system (Fluidigm Access Array) was used, followed by barcoding PCR with next-generation sequencing on Illumina MiSeq or MiniSeq. Fastq files were loaded into CLCbio Genomic Workbench for bioinformatic analysis. Five microsatellites markers (D4S1534, D4S1542, D4S1563, D4S1544, D4S414) were used to analyze families with PKD2 R803* mutation.


We identified mutations in 74.5% (114/153) of the ADPKD families in Taiwan. PKD1 and PKD2 represented 65.8% and 34% of diagnosed families, respectively. More than half of PKD2 mutations (22/39) were PKD2 R803* mutation. Marker D4S1563 differentiated those PKD2 R803* families into two groups. Heterozygous mutations of GANAB, ALG8, LRP5, SEC63, and PKHD1 were identified in our ADPKD cohort. Three missense PKD1 mutations were found in the non-ADPKD individuals.


Our study showed clinical diagnosed ADPKD is a genetic heterogeneous disease with different genes and variable clinical spectrum. De novo and compound heterozygous PKD1 mutations were found in individuals presented with severe disease. Microsatellite analysis indicated two different but closely related founders leading to the high prevalence of PKD2 R803* mutation in Taiwan. Furthermore, disease-causing ADPLD genes can be found in ADPKD families and PKD1 mutations can be found in individuals diagnosed as simple kidney cysts.


  • Government Support - Non-U.S.