
THE ROLE OF NEXT GENERATION SEQUENCING
IN THE DIFFERENTIAL DIAGNOSIS
OF CAROLI’S SYNDROME Smolović B, Muhović D, Hodžić A, Bergant G, Peterlin B *Corresponding Author: Professor Borut Peterlin, M.D., Ph.D., Department of Gynecology and
Obstetrics, Institute of Medical Genetics, Department of Gynecology and Obstetrics, University
Medical Centre Ljubljana, Šlajmerjeva Street 4, Ljubljana, Slovenia. Tel./Fax: +386-(0)1-540-1137.
E-mail: borut.peterlin@guest.arnes.si page: 49
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REFERENCES
1. Caroli 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].
2. Giovanardi RO. Monolobar Caroli’s disease in an
adult. Case report. Hepatogastroenterology. 2003;
50(54): 2185-2187.
3. Steinbrück 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.
4. Yonem O, Bayraktar Y. Clinical characteristics of
Caroli’s disease. World J Gastroenterol. 2007; 13(13):
1930-1933.
5. Gu 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.
6. Wang 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.
7. Caroli J. Diseases of the intrahepatic biliary tree. Clin
Gastroenterol. 1973; 2(1): 147-161.
8. Alzarka 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.
9. Shenoy 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.
10. Acioli ML, Costa LRG, de Miranda Henriques MS.
Diffuse Caroli’s disease with atypical presentation: A
case report. Ann Gastroenterol. 2014; 27(1): 79-81.
11. Hao 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.
12. Courcet 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.
13. Chung 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.
14. McKenna 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.
15. Broad Institute, Genome Analysis Toolkit: Variant
discover in high-throughput sequencing data. Accessed
December 2018 (https://software.broadinstitute.
org.gatk/).
16. Maver 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.
17. Lek 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.
18. The Genome Aggregation Database. GnomAD. Accessed
December 2018 (https://gnomad.broadinstitute.
org.about).
19. Sim 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.
20. Ng PC. Sorting intolerant from tolerant. Accessed
December 2018 (https://sift.bii.a-star.edu.sg/).
21. Adzhubei 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.
22. BWH Genetics, Harvard. PolyPhen-2: Prediction
of functional effects of human nsSNPs. Accessed
December 2018 (https://genetics.bwh.harvard.edu/
pph2/).
23. Schwarz JM, Cooper DN, Schuelke M, Seelow D.
MutationTaster2: Mutation prediction for the deepsequencing
age. Nat Methods. 2014; 11(4): 361-362.
24. Seelow D. Mutation Taster. Accessed December 2018
(http://www.mutationtaster.org/). 25. Landrum 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.
26. Melchionda 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.
27. Richards 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.
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