The role of next generation sequencing in the differential diagnosis of caroli’s syndrome

1Caroli J, Soupault R, Kossakowski J, Plocker L, Paradowska. [Congenital polycystic dilation of the intrahepatic bile ducts; attempt at classification]. Sem Hop. 1958; 34(8/2): 488-495/SP. [French].CaroliJSoupaultRKossakowskiJPlocker LParadowska[Congenital polycystic dilation of the intrahepatic bile ducts; attempt at classification]Sem Hop1958348/2488495/SP[French]Search in Google Scholar

2Giovanardi RO. Monolobar Caroli’s disease in an adult. Case report. Hepatogastroenterology. 2003; 50(54): 2185-2187.GiovanardiROMonolobar Caroli’s disease in an adult. Case reportHepatogastroenterology2003505421852187Search in Google Scholar

3Steinbrück K, Enne M, Fernandes R, Martinho JM, Pacheco-moreira LF. Living donor liver transplantation for Caroli’s disease: A report of two cases. ISRN Surg. 2011; 2011): 106487-106490.SteinbrückKEnneMFernandesRMartinhoJMPacheco-moreiraLFLiving donor liver transplantation for Caroli’s disease: A report of two casesISRN Surg201110648710649010.5402/2011/106487Search in Google Scholar

4Yonem O, Bayraktar Y. Clinical characteristics of Caroli’s disease. World J Gastroenterol. 2007; 13(13): 1930-1933.YonemOBayraktarYClinical characteristics of Caroli’s diseaseWorld J Gastroenterol200713131930193310.3748/wjg.v13.i13.1930Search in Google Scholar

5Gu D, Park M, Jung C, Yoo Y, Cho J, Ryu H, et al. Caroli’s disease misdiagnosed as intraductal papillary neoplasm of the bile duct. Clin Mol Hepatol. 2015; 21(2): 175-179.GuDParkMJungCYooYChoJRyuHCaroli’s disease misdiagnosed as intraductal papillary neoplasm of the bile ductClin Mol Hepatol201521217517910.3350/cmh.2015.21.2.175Search in Google Scholar

6Wang Z, Li Y, Wang R, Li Y, Li Z, Xiao X, et al. Clinical classification of Caroli’s disease: An analysis of 30 patients. HPB (Oxford). 2015; 17(3): 278-283.WangZLiYWangRLiYLiZXiaoXClinical classification of Caroli’s disease: An analysis of 30 patientsHPB (Oxford)201517327828310.1111/hpb.12330Search in Google Scholar

7Caroli J. Diseases of the intrahepatic biliary tree. Clin Gastroenterol. 1973; 2(1): 147-161.CaroliJDiseases of the intrahepatic biliary treeClin Gastroenterol19732114716110.1016/S0300-5089(21)00338-2Search in Google Scholar

8Alzarka B, Morizono H, Bollman J, Kim D, Guay-Woodford L. Design and implementation of the hepatorenal fibrocystic disease core center clinical database: A centralized resource for characterizing autosomal recessive polycystic kidney disease and other hepatorenal fibrocystic diseases. Front Pediatr. 2017; 5: 80-85.AlzarkaBMorizonoHBollmanJKimDGuay-WoodfordLDesign and implementation of the hepatorenal fibrocystic disease core center clinical database: A centralized resource for characterizing autosomal recessive polycystic kidney disease and other hepatorenal fibrocystic diseasesFront Pediatr20175808510.3389/fped.2017.00080539750328473971Search in Google Scholar

9Shenoy P, Zaki S, Shanbag P, Bhongade S. Caroli’s syndrome with autosomal recessive polycystic kidney disease. Saudi J Kidney Dis Transpl. 2014; 25(4): 840-843.ShenoyPZakiSShanbagPBhongadeSCaroli’s syndrome with autosomal recessive polycystic kidney diseaseSaudi J Kidney Dis Transpl201425484084310.4103/1319-2442.13517624969198Search in Google Scholar

10Acioli ML, Costa LRG, de Miranda Henriques MS. Diffuse Caroli’s disease with atypical presentation: A case report. Ann Gastroenterol. 2014; 27(1): 79-81.AcioliMLCostaLRGde MirandaHenriques MSDiffuse Caroli’s disease with atypical presentation: A case reportAnn Gastroenterol20142717981Search in Google Scholar

11Hao X, Liu S, Dong Q, Zhang H, Zhao J, Su L. Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease. PLoS One. 2014; 9(4): e92661-e92666.HaoXLiuSDongQZhangHZhaoJSuLWhole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli diseasePLoS One201494e92661e9266610.1371/journal.pone.0092661397780824710345Search in Google Scholar

12Courcet J, Minello A, Prieur F, Morisse L, Phelip J, Faivre L, et al. Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations. Am J Med Genet A. 2015; 167A(12): 3046-3053.CourcetJMinelloAPrieurFMorisseLPhelipJFaivreLCompound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformationsAm J Med Genet A2015167A123046305310.1002/ajmg.a.3735226385851Search in Google Scholar

13Chung EM, Conran RM, Schroeder JW, Rohena-Quinquilla IR, Rooks VJ. From the radiologic pathology archives: Pediatric polycystic kidney disease and other ciliopathies: radiologic-pathologic correlation. Radio-graphics. 2014; 34(1): 155-178.ChungEMConranRMSchroederJWRohena-QuinquillaIRRooksVJFrom the radiologic pathology archives: Pediatric polycystic kidney disease and other ciliopathies: radiologic-pathologic correlationRadio-graphics201434115517810.1148/rg.34113517924428289Search in Google Scholar

14McKenna A, Hanna M, Banks E, Sivachenko A, Cibulski K, Kernytsky A, et al. The genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010; 20(9): 1297-1303.McKennaAHannaMBanksESivachenkoACibulskiKKernytskyAThe genome analysis toolkit: A MapReduce framework for analyzing next-generation DNA sequencing dataGenome Res20102091297130310.1101/gr.107524.110292850820644199Search in Google Scholar

15Broad Institute, Genome Analysis Toolkit: Variant discover in high-throughput sequencing data. Accessed December 2018 https://software.broadinstitute.org.gatk/Broad InstituteGenome Analysis Toolkit: Variant discover in high-throughput sequencing dataAccessed December2018https://software.broadinstitute.org.gatk/Search in Google Scholar

16Maver A, Lovrečić L, Volk M, Rudolf G, Writzl K, Blatnic A, et al. Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation. Genet Med. 2015; 18(11): 1102-1110.MaverALovrečićLVolkMRudolfGWritzlKBlatnicAPhenotype-driven gene target definition in clinical genome-wide sequencing data interpretationGenet Med201518111102111010.1038/gim.2016.22Search in Google Scholar

17Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variations in 60,706 humans. Nature. 2016; 536(7616): 285-291.LekMKarczewskiKJMinikelEVSamochaKEBanksEFennellTAnalysis of protein-coding genetic variations in 60,706 humansNature2016536761628529110.1038/nature19057501820727535533Search in Google Scholar

18The Genome Aggregation Database. GnomAD. Accessed December 2018 https://gnomad.broadinstitute.org.aboutThe Genome Aggregation Database. GnomAD. Accessed December2018https://gnomad.broadinstitute.org.aboutSearch in Google Scholar

19Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: Predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 2012; 40(Web Server issue): W452-W457.SimNLKumarPHuJHenikoffSSchneiderGNgPCSIFT web server: Predicting effects of amino acid substitutions on proteinsNucleic Acids Res201240Web Server issueW452W45710.1093/nar/gks539339433822689647Search in Google Scholar

20Ng PC. Sorting intolerant from tolerant. Accessed December 2018 https://sift.bii.a-star.edu.sg/Ng PC. Sorting intolerant from tolerant. Accessed December2018https://sift.bii.a-star.edu.sg/Search in Google Scholar

21Adzhubei IA, Schmidt S, Peshin L, Ramensky VE, Gerasimov A, Bork P, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010; 7(4): 248-249.AdzhubeiIASchmidtSPeshinLRamenskyVEGerasimovABorkPA method and server for predicting damaging missense mutationsNat Methods20107424824910.1038/nmeth0410-248285588920354512Search in Google Scholar

22BWH Genetics, Harvard. PolyPhen-2: Prediction of functional effects of human nsSNPs. Accessed December 2018 https://genetics.bwh.harvard.edu/pph2/BWH GeneticsHarvard. PolyPhen-2: Prediction of functional effects of human nsSNPsAccessed December2018https://genetics.bwh.harvard.edu/pph2/Search in Google Scholar

23Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: Mutation prediction for the deep-sequencing age. Nat Methods. 2014; 11(4): 361-362.SchwarzJMCooperDNSchuelkeMSeelowDMutationTaster2: Mutation prediction for the deep-sequencing ageNat Methods201411436136210.1038/nmeth.289024681721Search in Google Scholar

24Seelow D. Mutation Taster. Accessed December 2018 http://www.mutationtaster.org/Seelow D. Mutation Taster. Accessed December2018http://www.mutationtaster.org/Search in Google Scholar

25Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, et al. ClinVar: Public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014; 42(Database issue): D980-D985.LandrumMJLeeJMRileyGRJangWRubinsteinWSChurchDMClinVar: Public archive of relationships among sequence variation and human phenotypeNucleic Acids Res201442Database issueD980D98510.1093/nar/gkt1113396503224234437Search in Google Scholar

26Melchionda S, Palladino T, Castellana S, Giordano M, Benetti E, De Bonis P, et al. Expanding the mutation spectrum in 130 probands with ARPKD: Identification of 62 novel PKHD1 mutations by Sanger sequencing and MLPA analysis. J Hum Genet. 2016; 61(9): 811-821.MelchiondaSPalladinoTCastellanaSGiordanoMBenettiEDe BonisPExpanding the mutation spectrum in 130 probands with ARPKD: Identification of 62 novel PKHD1 mutations by Sanger sequencing and MLPA analysisJ Hum Genet201661981182110.1038/jhg.2016.5827225849Search in Google Scholar

27Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015; 17(5): 405-424.RichardsSAzizNBaleSBickDDasSGastier-FosterJACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyGenet Med201517540542410.1038/gim.2015.30454475325741868Search in Google Scholar