Arkhipov SN, Potter DL, Sultanova RF, Ilatovskaya DV, Harris PC, Pavlov TS (2023) Probenecid slows disease progression in a murine model of autosomal dominant polycystic kidney disease. Physiol Rep 11(7):15652. https://doi.org/10.14814/phy2.15652

Article  CAS  Google Scholar 

Audrézet MP, Cornec-Le Gall E, Chen JM, Redon S, Quéré I, Creff J, Bénech C, Maestri S, Le Meur Y, Férec C (2012) Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients. Hum Mutat 33(8):1239–1250. https://doi.org/10.1002/humu.22103

Article  PubMed  CAS  Google Scholar 

Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE (2018) Polycystic kidney disease. Nat Rev Dis Primers 4(1):50. https://doi.org/10.1038/s41572-018-0047-y

Article  PubMed  PubMed Central  Google Scholar 

Besse W, Chang AR, Luo JZ, Triffo WJ, Moore BS, Gulati A, Hartzel DN, Mane S, Torres VE, Somlo S, Mirshahi T (2019) ALG9 mutation carriers develop kidney and liver cysts. J Am Soc Nephrol 30(11):2091–2102. https://doi.org/10.1681/asn.2019030298

Article  PubMed  PubMed Central  CAS  Google Scholar 

Blais J, Lavoie SB, Giroux S, Bussières J, Lindsay C, Dionne J, Laroche M, Giguère Y, Rousseau F (2015) Risk of misdiagnosis due to allele dropout and false-positive PCR artifacts in molecular diagnostics: analysis of 30,769 genotypes. J Mol Diagn 17(5):505–514. https://doi.org/10.1016/j.jmoldx.2015.04.004

Article  PubMed  CAS  Google Scholar 

Bogdanova N, McCluskey M, Sikmann K, Markoff A, Todorov V, Dimitrakov D, Schiavello T, Thomas M, Kalaydjieva L, Dworniczak B, Horst J (2000) Screening the 3’ region of the polycystic kidney disease 1 (PKD1) gene in 41 Bulgarian and Australian kindreds reveals a prevalence of protein truncating mutations. Hum Mutat 16(2):166–174. https://doi.org/10.1002/1098-1004(200008)16:2%3c166::Aid-humu9%3e3.0.Co;2-4

Article  PubMed  CAS  Google Scholar 

Bogdanova N, Markoff A, Gerke V, McCluskey M, Horst J, Dworniczak B (2001) Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes. Genomics 74(3):333–341. https://doi.org/10.1006/geno.2001.6568

Article  PubMed  CAS  Google Scholar 

Chung W, Kim H, Hwang YH, Kim SY, Ko AR, Ro H, Lee KB, Lee JS, Oh KH, Ahn C (2006) PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning. Clin Genet 70(6):502–508. https://doi.org/10.1111/j.1399-0004.2006.00721.x

Article  PubMed  CAS  Google Scholar 

Cornec-Le Gall E, Torres VE, Harris PC (2018b) Genetic complexity of autosomal dominant polycystic kidney and liver diseases. J Am Soc Nephrol 29(1):13–23. https://doi.org/10.1681/asn.2017050483

Article  PubMed  CAS  Google Scholar 

Cornec-Le Gall E, Olson RJ, Besse W, Heyer CM, Gainullin VG, Smith JM, Audrézet MP, Hopp K, Porath B, Shi B, Baheti S, Senum SR, Arroyo J, Madsen CD, Férec C, Joly D, Jouret F, Fikri-Benbrahim O, Charasse C, … Harris PC (2018a) Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease. Am J Hum Genet 102(5):832–844. https://doi.org/10.1016/j.ajhg.2018.03.013

Devlin LA, Sayer JA (2019) Renal ciliopathies. Curr Opin Genet Dev 56:49–60. https://doi.org/10.1016/j.gde.2019.07.005

Article  PubMed  CAS  Google Scholar 

Entezam M, Khatami MR, Saddadi F, Ayati M, Roozbeh J, Keramatipour M (2016a) PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data. Kidney Res Clin Pract 35(2):96–101. https://doi.org/10.1016/j.krcp.2016.02.003

Article  PubMed  PubMed Central  Google Scholar 

Entezam M, Khatami MR, Saddadi F, Ayati M, Roozbeh J, Saghafi H, Keramatipour M (2016b) Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis. Cell Mol Biol 62(2):15–20. https://doi.org/10.14715/cmb/2016.62.2.3

Article  PubMed  CAS  Google Scholar 

Harris PC, Rossetti S (2010) Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol 6(4):197–206. https://doi.org/10.1038/nrneph.2010.18

Article  PubMed  PubMed Central  CAS  Google Scholar 

Hateboer N, Veldhuisen B, Peters D, Breuning MH, San-Millán JL, Bogdanova N, Coto E, van Dijk MA, Afzal AR, Jeffery S, Saggar-Malik AK, Torra R, Dimitrakov D, Martinez I, de Castro SS, Krawczak M, Ravine D (2000) Location of mutations within the PKD2 gene influences clinical outcome. Kidney Int 57(4):1444–1451. https://doi.org/10.1046/j.1523-1755.2000.00989.x

Article  PubMed  CAS  Google Scholar 

Hosseinpour M, Ardalani F, Mohseni M, Beheshtian M, Arzhangi S, Ossareh S, Najmabadi H, Nobakht A, Kahrizi K, Broumand B (2022) Targeted next generation sequencing revealed novel variants in the PKD1 and PKD2 genes of Iranian patients with autosomal dominant polycystic kidney disease. Arch Iran Med 25(9):600–608. https://doi.org/10.34172/aim.2022.95

Article  PubMed  PubMed Central  Google Scholar 

Hu HY, Zhang J, Qiu W, Liang C, Li CX, Wei TY, Feng ZK, Guo Q, Yang K, Liu ZG (2021) Comprehensive strategy improves the genetic diagnosis of different polycystic kidney diseases. J Cell Mol Med 25(13):6318–6332. https://doi.org/10.1111/jcmm.16608

Article  PubMed  PubMed Central  CAS  Google Scholar 

Hwang YH, Conklin J, Chan W, Roslin NM, Liu J, He N, Wang K, Sundsbak JL, Heyer CM, Haider M, Paterson AD, Harris PC, Pei Y (2016) Refining genotype-phenotype correlation in autosomal dominant polycystic kidney disease. J Am Soc Nephrol 27(6):1861–1868. https://doi.org/10.1681/asn.2015060648

Article  PubMed  CAS  Google Scholar 

Jin M, Xie Y, Chen Z, Liao Y, Li Z, Hu P, Qi Y, Yin Z, Li Q, Fu P, Chen X (2016) System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease. Sci Rep 6:35945. https://doi.org/10.1038/srep35945

Article  PubMed  PubMed Central  CAS  Google Scholar 

Kim H, Park HC, Ryu H, Kim H, Lee HS, Heo J, Lee C, Kim NKD, Park WY, Hwang YH, Lee KB, Oh KH, Oh YK, Ahn C (2019) Genetic characteristics of korean patients with autosomal dominant polycystic kidney disease by targeted exome sequencing. Sci Rep 9(1):16952. https://doi.org/10.1038/s41598-019-52474-1

Article  PubMed  PubMed Central  CAS  Google Scholar 

Landsverk ML, Douglas GV, Tang S, Zhang VW, Wang GL, Wang J, Wong LJ (2012) Diagnostic approaches to apparent homozygosity. Genet Med 14(10):877–882. https://doi.org/10.1038/gim.2012.58

Article  PubMed  CAS  Google Scholar 

Lanktree MB, Haghighi A, di Bari I, Song X, Pei Y (2021) Insights into autosomal dominant polycystic kidney disease from genetic studies. Clin J Am Soc Nephrol 16(5):790–799. https://doi.org/10.2215/cjn.02320220

Article  PubMed  PubMed Central  CAS  Google Scholar 

Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754–1760. https://doi.org/10.1093/bioinformatics/btp324

Article  PubMed  PubMed Central  CAS  Google Scholar 

Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, … Pei Y (2003) Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. J Am Soc Nephrol 14(5):1164–1174. https://doi.org/10.1097/01.asn.0000061774.90975.25

Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N (2011) What can exome sequencing do for you? J Med Genet 48(9):580–589. https://doi.org/10.1136/jmedgenet-2011-100223

Article  PubMed  CAS  Google Scholar 

Mallawaarachchi AC, Hort Y, Cowley MJ, McCabe MJ, Minoche A, Dinger ME, Shine J, Furlong TJ (2016) Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. Eur J Hum Genet 24(11):1584–1590. https://doi.org/10.1038/ejhg.2016.48

Article  PubMed  PubMed Central  CAS  Google Scholar 

Ong AC, Devuyst O, Knebelmann B, Walz G (2015) Autosomal dominant polycystic kidney disease: the changing face of clinical management. Lancet 385(9981):1993–2002. https://doi.org/10.1016/s0140-6736(15)60907-2

Article  PubMed  Google Scholar