Biallelic Mutations in Ubiquitin-Specific Peptidase 53 (USP53) Causing Progressive Intrahepatic Cholestasis. Report of a Case With Review of Literature

1. Boyer, JL . Bile formation and secretion. Comp Physiol. 2013;3(3):1035-1078.
Google Scholar | Crossref | Medline2. Linton, KJ . Lipid flopping in the liver. Biochem Soc Trans. 2015;43(5):1003-1010.
Google Scholar | Crossref | Medline3. Davit-Spraul, A, Gonzales, E, Baussan, C, Jacquemin, E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009;4:1.
Google Scholar | Crossref | Medline4. Vij, M, Safwan, M, Shanmugam, NP, Rela, M. Liver pathology in severe multidrug resistant 3 protein deficiency: a series of 10 pediatric cases. Ann Diagn Pathol. 2015;19(5):277-282.
Google Scholar | Crossref | Medline5. Vij, M, Rela, M. Biliary atresia: pathology, etiology and pathogenesis. Future Sci OA. 2020;6(5):FSO466.
Google Scholar | Crossref | Medline6. Valamparampil, JJ, Reddy, MS, Shanmugam, N, Vij, M, Kanagavelu, RG, Rela, M. Living donor liver transplantation in alagille syndrome-Single center experience from south Asia. Pediatr Transplant. 2019;23(8):e13579.
Google Scholar | Crossref | Medline7. Oud, MM, Lamers, IJ, Arts, HH. Ciliopathies: genetics in pediatric medicine. J Pediatr Genet. 2017;6(1):18-29.
Google Scholar | Crossref | Medline8. Heubi, JE, Setchell, KDR, Bove, KE. Inborn errors of bile acid metabolism. Clin Liver Dis. 2018;22(4):671-687.
Google Scholar | Crossref | Medline9. Gonzales, E, Taylor, SA, Davit-Spraul, A, et al. MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusiondisease. Hepatology. 2017;65(1):164-173.
Google Scholar | Crossref | Medline10. Vij, M, Shanmugam, NP, Reddy, MS, Sankaranarayanan, S, Rela, M. Paediatric hepatocellular carcinoma in tight junction protein 2 (TJP2) deficiency. Virchows Arch. 2017;471(5):679-683.
Google Scholar | Crossref | Medline11. Chen, HL, Wu, SH, Hsu, SH, Liou, BY, Chen, HL, Chang, MH. Jaundice revisited: recent advances in the diagnosis and treatment of inherited cholestatic liver diseases. J Biomed Sci. 2018;25(1):75.
Google Scholar | Crossref | Medline12. Feldman, AG, Sokol, RJ. Neonatal cholestasis: emerging molecular diagnostics and potential novel therapeutics. Nat Rev Gastroenterol Hepatol. 2019;16(6):346-360. doi:10.1038/s41575-019-0132-z.PMID:30903105.
Google Scholar | Crossref | Medline13. Zhang, J, Yang, Y, Gong, JY, et al. Low-GGT intrahepatic cholestasis associated with biallelic USP53 variants: Clinical, histological and ultrastructural characterization. Liver Int. 2020;40(5):1142-1150.
Google Scholar | Crossref | Medline14. Maddirevula, S, Alhebbi, H, Alqahtani, A, et al. Identification of novel loci for pediatric cholestatic liver disease defined by KIF12, PPM1F, USP53, LSR, and WDR83OS pathogenic variants. Genet Med. 2019;21(5):1164-1172.
Google Scholar | Crossref | Medline15. Quesada, V, Díaz-Perales, A, Gutiérrez-Fernández, A, Garabaya, C, Cal, S, López-Otín, C. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific. Biochem Biophys Res Commun. 2004;314(1):54-62.
Google Scholar | Crossref | Medline | ISI16. Hu, M, Li, P, Li, M, et al. Crystal structure of a UBP-family deubiquitinating enzyme in isolation and in complex with ubiquitin aldehyde. Cell. 2002;111(7):1041-1054.
Google Scholar | Crossref | Medline17. Kazmierczak, M, Harris, SL, Kazmierczak, P, et al. Progressive hearing loss in mice carrying a mutation in Usp53. J Neurosci. 2015;35(47):15582-15598.
Google Scholar | Crossref | Medline18. Alhebbi, H, Peer-Zada, AA, Al-Hussaini, AA, et al. New paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin. J Hum Genet. 2021;66(2):151-159.
Google Scholar | Crossref | Medline19. Furuse, M, Fujita, K, Hiiragi, T, Fujimoto, K, Tsukita, S. Claudin-1 and -2: novelintegral membrane proteins localizing at tight junctions with no sequencesimilarity to occludin. J Cell Biol. 1998;141(7):1539-1550.
Google Scholar | Crossref | Medline | ISI20. Grosse, B, Cassio, D, Yousef, N, Bernardo, C, Jacquemin, E, Gonzales, E. Claudin-1 involved in neonatal ichthyosis sclerosing cholangitis syndrome regulateshepatic paracellular permeability. Hepatology. 2012;55(4):1249-1259.
Google Scholar | Crossref | Medline21. Sambrotta, M, Strautnieks, S, Papouli, E, University of Washington Center for Mendelian Genomics, Smith, JD, Johnson, CA, McClean, P, et al. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet. 2014;46(4):326-328.
Google Scholar | Crossref | Medline22. Walsh, T, Pierce, SB, Lenz, DR, et al. Genomic duplication and overexpression ofTJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51. Am J Hum Genet. 2010;87(1):101-109.
Google Scholar | Crossref | Medline23. Porta, G, Rigo, PSM, Porta, A, et al. Progressive familial intrahepatic cholestasis associated with USP53 gene mutation in a Brazilian child. J Pediatr Gastroenterol Nutr. 2021;72(5):674-676.
Google Scholar | Crossref | Medline24. Bull, LN, Ellmers, R, Foskett, P, et al. Cholestasis due to USP53 deficiency. J Pediatr Gastroenterol Nutr. 2021;72(5):667-673.
Google Scholar | Crossref | Medline25. Pawlikowska, L, Groen, A, Eppens, EF, et al. A mouse genetic model forfamilial cholestasis caused by ATP8B1 mutations reveals perturbed bile salthomeostasis but no impairment in bile secretion. Hum Mol Genet. 2004;13(8):881-892.
Google Scholar | Crossref | Medline26. Groen, A, Kunne, C, Paulusma, CC, et al. Intestinal bile salt absorption in Atp8b1 deficient mice. J Hepatol. 2007;47(1):114-122.
Google Scholar | Crossref | Medline

留言 (0)

沒有登入
gif