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Article

Co‑segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease

  • Authors:
    • Fariba Ranjzad
    • Ahmad Tara
    • Abbas Basiri
    • Nasser Aghdami
    • Reza Moghadasali
  • View Affiliations / Copyright

    Affiliations: Urology and Nephrology Research Center, Shahid Beheshti University of Medical Sciences, Tehran‑1666677951, Islamic Republic of Iran, Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran‑8158968433, Islamic Republic of Iran
  • Pages: 1345-1349
    |
    Published online on: June 19, 2019
       https://doi.org/10.3892/etm.2019.7693
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Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is the fourth most common cause of end‑stage renal disease, occurring at a frequency of 1 in 400 to 1 in 800 individuals among different populations. The disease affects all ethnic groups worldwide, and there is a requirement for population‑based studies to be conducted in order to improve diagnosis, genetic counseling and treatment. A large Iranian family with ADPKD was recruited for the current study. Clinical evaluation was performed to diagnose and assess disease progression in 11 members of this family, including 7 affected members and 4 unaffected members. PKD1 and PKD2 genes were genotyped in subjects by next‑generation sequencing (NGS). Mutational analysis of PKD1 and PKD2 genes in this family revealed three intronic variations and three synonymous exonic variants in the PKD2 gene, and two non‑synonymous exonic variants and eight intronic variants in PKD1, resulting in a total of 16 heterozygous variations among these two genes. Among the 16 variations, all except three intronic variants in the PKD1 gene have already reported in the Iranian population. The three novel mutations were predicted to be deleterious polymorphisms using in silico methods. Among the reported intronic variations, rs201204878 was identified as a splice region variant, leading to truncation of the polycystin‑1 protein. In conclusion, genotyping of PKD1 and PKD2 in this family with ADPKD revealed no mutational hot spots. However, genetic screening identified three novel variants in the Iranian population. The data generated in the present study will contribute to improving the diagnosis, genetic counseling and treatment of patients with ADPKD.
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1 

Trujillano D, Bullich G, Ossowski S, Ballarín J, Torra R, Estivill X and Ars E: Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing. Mol Genet Genomic Med. 2:412–421. 2014. View Article : Google Scholar : PubMed/NCBI

2 

Wilson PD: Polycystic kidney disease. N Engl J Med. 350:151–164. 2004. View Article : Google Scholar : PubMed/NCBI

3 

Srivastava A and Patel N: Autosomal dominant polycystic kidney disease. Am Fam Physician. 90:303–307. 2014.PubMed/NCBI

4 

Kurashige M, Hanaoka K, Imamura M, Udagawa T, Kawaguchi Y, Hasegawa T, Hosoya T, Yokoo T and Maeda S: A comprehensive search for mutations in the PKD1 and PKD2 in Japanese subjects with autosomal dominant polycystic kidney disease. Clin Genet. 87:266–272. 2015. View Article : Google Scholar : PubMed/NCBI

5 

Germino GG, Weinstat-Saslow D, Himmelbauer H, Gillespie GA, Somlo S, Wirth B, Barton N, Harris KL, Frischauf AM and Reeders ST: The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. Genomics. 13:144–151. 1992. View Article : Google Scholar : PubMed/NCBI

6 

Cornec-Le Gall E, Audrézet MP, Le Meur Y, Chen JM and Férec C: Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. Hum Mutat. 35:1393–1406. 2014. View Article : Google Scholar : PubMed/NCBI

7 

Hughes J, Ward CJ, Peral B, Aspinwall R, Clark K, San Millán JL, Gamble V and Harris PC: The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet. 10:151–160. 1995. View Article : Google Scholar : PubMed/NCBI

8 

Nims N, Vassmer D and Maser RL: Transmembrane domain analysis of polycystin-1, the product of the polycystic kidney disease-1 (PKD1) gene: Evidence for 11 membrane-spanning domains. Biochemistry. 42:13035–13048. 2003. View Article : Google Scholar : PubMed/NCBI

9 

Pei Y, Obaji J, Dupuis A, Paterson AD, Magistroni R, Dicks E, Parfrey P, Cramer B, Coto E, Torra R, et al: Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol. 20:205–212. 2009. View Article : Google Scholar : PubMed/NCBI

10 

Tan AY, Michaeel A, Liu G, Elemento O, Blumenfeld J, Donahue S, Parker T, Levine D and Rennert H: Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. J Mol Diagn. 16:216–228. 2014. View Article : Google Scholar : PubMed/NCBI

11 

Ding L and Zhang S, Qiu W, Xiao C, Wu S, Zhang G, Cheng L and Zhang S: Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease. Nephrol Dial Transplant. 17:75–80. 2002. View Article : Google Scholar : PubMed/NCBI

12 

Yu C, Yang Y, Zou L, Hu Z, Li J, Liu Y, Ma Y, Ma M, Su D and Zhang S: Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease. BMC Med Genet. 12:1642011. View Article : Google Scholar : PubMed/NCBI

13 

Liu G, Tan AY, Michaeel A, Blumenfeld J, Donahue S, Bobb W, Parker T, Levine D and Rennert H: Development and validation of a whole genome amplification long-range PCR sequencing method for ADPKD genotyping of low-level DNA samples. Gene. 550:131–135. 2014. View Article : Google Scholar : PubMed/NCBI

14 

Yang T, Meng Y, Wei X, Shen J, Zhang M, Qi C, Wang C, Liu J, Ma M and Huang S: Identification of novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease by targeted next-generation sequencing. Clin Chim Acta. 433:12–19. 2014. View Article : Google Scholar : PubMed/NCBI

15 

Rossetti S, Hopp K, Sikkink RA, Sundsbak JL, Lee YK, Kubly V, Eckloff BW, Ward CJ, Winearls CG, Torres VE and Harris PC: Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing. J Am Soc Nephrol. 23:915–933. 2012. View Article : Google Scholar : PubMed/NCBI

16 

Eisenberger T, Decker C, Hiersche M, Hamann RC, Decker E, Neuber S, Frank V, Bolz HJ, Fehrenbach H, Pape L, et al: An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease. PloS One. 10:e01166802015. View Article : Google Scholar : PubMed/NCBI

17 

Edrees BM, Athar M, Al-Allaf FA, Taher MM, Khan W, Bouazzaoui A, Al-Harbi N, Safar R, Al-Edressi H, Alansary K, et al: Next-generation sequencing for molecular diagnosis of autosomal recessive polycystic kidney disease. Gene. 591:214–226. 2016. View Article : Google Scholar : PubMed/NCBI

18 

Harris PC and Hopp K: The mutation, a key determinant of phenotype in ADPKD. J Am Soc Nephrol. 24:868–870. 2013. View Article : Google Scholar : PubMed/NCBI

19 

Li J, Yu C, Tao Y, Yang Y, Hu Z and Zhang S: Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family. Int J Urol. 18:240–242. 2011. View Article : Google Scholar : PubMed/NCBI

20 

Gout AM, Martin NC, Brown AF and Ravine D: PKDB: Polycystic kidney disease mutation database-a gene variant database for autosomal dominant polycystic kidney disease. Hum Mutat. 28:654–659. 2007. View Article : Google Scholar : PubMed/NCBI

21 

Ravine D, Gibson RN, Walker RG, Sheffield LJ, Kincaid-Smith P and Danks DM: Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet. 343:824–827. 1994. View Article : Google Scholar : PubMed/NCBI

22 

Sambrook J and Russell DW: Purification of nucleic acids by extraction with phenol: Chloroform. CSH Protoc. 2006.pdb.prot44552006.PubMed/NCBI

23 

Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS and Cooper DN: The human gene mutation database: 2008 update. Genome Med. 1:132009. View Article : Google Scholar : PubMed/NCBI

24 

Schwarz JM, Rödelsperger C, Schuelke M and Seelow D: MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 7:575–576. 2010. View Article : Google Scholar : PubMed/NCBI

25 

Kumar P, Henikoff S and Ng PC: Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc. 4:1073–1081. 2009. View Article : Google Scholar : PubMed/NCBI

26 

Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS and Sunyaev SR: A method and server for predicting damaging missense mutations. Nat Methods. 7:248–249. 2010. View Article : Google Scholar : PubMed/NCBI

27 

Desmet FO, Hamroun D, Lalande M, Collod-Béroud G, Claustres M and Béroud C: Human Splicing Finder: An online bioinformatics tool to predict splicing signals. Nucleic Acids Res. 37:e672009. View Article : Google Scholar : PubMed/NCBI

28 

Rossetti S, Chauveau D, Walker D, Saggar-Malik A, Winearls CG, Torres VE and Harris PC: A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int. 61:1588–1599. 2002. View Article : Google Scholar : PubMed/NCBI

29 

Kinoshita M, Higashihara E, Kawano H, Higashiyama R, Koga D, Fukui T, Gondo N, Oka T, Kawahara K, Rigo K, et al: Technical evaluation: Identification of pathogenic mutations in PKD1 and PKD2 in patients with autosomal dominant polycystic kidney disease by next-generation sequencing and use of a comprehensive new classification system. PloS One. 11:e01662882016. View Article : Google Scholar : PubMed/NCBI

30 

Flaherty L, Bryda EC, Collins D, Rudofsky U and Montgomery JC: New mouse model for polycystic kidney disease with both recessive and dominant gene effects. Kidney Int. 47:552–558. 1995. View Article : Google Scholar : PubMed/NCBI

31 

Cornec-Le Gall E, Audrézet MP, Chen JM, Hourmant M, Morin MP, Perrichot R, Charasse C, Whebe B, Renaudineau E, Jousset P, et al: Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol. 24:1006–1013. 2013. View Article : Google Scholar : PubMed/NCBI

32 

Heyer CM, Sundsbak JL, Abebe KZ, Chapman AB, Torres VE, Grantham JJ, Bae KT, Schrier RW, Perrone RD, Braun WE, et al: Predicted mutation strength of nontruncating PKD1 mutations aids genotype-phenotype correlations in autosomal dominant polycystic kidney disease. J Am Soc Nephrol. 27:2872–2884. 2016. View Article : Google Scholar : PubMed/NCBI

33 

Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM and Sirotkin K: dbSNP: The NCBI database of genetic variation. Nucleic Acids Res. 29:308–311. 2001. View Article : Google Scholar : PubMed/NCBI

34 

Gainullin VG, Hopp K, Ward CJ, Hommerding CJ and Harris PC: Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. J Clin Invest. 125:607–620. 2015. View Article : Google Scholar : PubMed/NCBI

35 

Siva N: 1000 Genomes project. Nat Biotechnol. 26:2562008. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Ranjzad F, Tara A, Basiri A, Aghdami N and Moghadasali R: Co‑segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease. Exp Ther Med 18: 1345-1349, 2019.
APA
Ranjzad, F., Tara, A., Basiri, A., Aghdami, N., & Moghadasali, R. (2019). Co‑segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease. Experimental and Therapeutic Medicine, 18, 1345-1349. https://doi.org/10.3892/etm.2019.7693
MLA
Ranjzad, F., Tara, A., Basiri, A., Aghdami, N., Moghadasali, R."Co‑segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease". Experimental and Therapeutic Medicine 18.2 (2019): 1345-1349.
Chicago
Ranjzad, F., Tara, A., Basiri, A., Aghdami, N., Moghadasali, R."Co‑segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease". Experimental and Therapeutic Medicine 18, no. 2 (2019): 1345-1349. https://doi.org/10.3892/etm.2019.7693
Copy and paste a formatted citation
x
Spandidos Publications style
Ranjzad F, Tara A, Basiri A, Aghdami N and Moghadasali R: Co‑segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease. Exp Ther Med 18: 1345-1349, 2019.
APA
Ranjzad, F., Tara, A., Basiri, A., Aghdami, N., & Moghadasali, R. (2019). Co‑segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease. Experimental and Therapeutic Medicine, 18, 1345-1349. https://doi.org/10.3892/etm.2019.7693
MLA
Ranjzad, F., Tara, A., Basiri, A., Aghdami, N., Moghadasali, R."Co‑segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease". Experimental and Therapeutic Medicine 18.2 (2019): 1345-1349.
Chicago
Ranjzad, F., Tara, A., Basiri, A., Aghdami, N., Moghadasali, R."Co‑segregation of candidate polymorphism rs201204878 of the PKD1 gene in a large Iranian family with autosomal dominant polycystic disease". Experimental and Therapeutic Medicine 18, no. 2 (2019): 1345-1349. https://doi.org/10.3892/etm.2019.7693
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