A Case of End-Stage Renal Disease with Joubert Syndrome due to CEP290 Mutation
![]() |
Kim, Sung Hoon
(Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine)
Lee, Sang Taek (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine) Seong, Moon-Woo (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) Kim, Man Jin (Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine) Lee, Jun Hwa (Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine) |
1 | Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969;19:813-25. DOI |
2 | Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol 2013;12:894-905. DOI |
3 | Incecik F, Herguner MO, Altunbasak S, Gleeson JG. Joubert syndrome: report of 11 cases. Turk J Pediatr 2012;54:605-11. |
4 | Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis 2010;5:20. DOI |
5 | Parisi MA. The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. Transl Sci Rare Dis 2019;4:25-49. |
6 | Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, et al. "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423-30. DOI |
7 | Poretti A, Huisman TAGM, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol 2011;32:1459-63. DOI |
8 | Poretti A, Snow J, Summers AC, Tekes A, Huisman TAGM, Aygun N, et al. Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause. J Med Gen 2017;54:521-9. DOI |
9 | Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell 2011;145:513-28. DOI |
10 | Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J et al. 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;17:405-24. DOI |
11 | Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, et al. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 1999;14:368-76. DOI |
12 | Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999;14:583-90. DOI |
13 | Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinanee AR, et al. Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med 2017;19:875-82. DOI |
14 | Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D. Mortality in Joubert syndrome. Am J Med Genet A 2017;173:1237-42. DOI |
15 | Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, et al. Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center. Ophthalmology 2018;125:1937-52. DOI |
16 | Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, et al. Prospective Evaluation of Kidney Disease in Joubert Syndrome. Clin J Am Soc Nephrol 2017;12:1962-73. DOI |
17 | Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet 2004;75:82-91. DOI |
18 | Ramsbottom SA, Molinari E, Srivastava S, Silberman F, Henry C, Alkanderi S, et al. Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model. Proc Natl Acad Sci U S A 2018;115:12489-94. DOI |
19 | Dooley SJ, McDougald DS, Fisher KJ, Bennicelli JL, Mitchell LG, Bennett J. Spliceosome-Mediated PremRNA trans-Splicing Can Repair CEP290 mRNA. Mol Ther Nucleic Acids 2018;12:294-308. DOI |
![]() |