References
- 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(9):813–25. doi: 10.1212/wnl.19.9.813
- 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(7):423-30. doi: 10.1177/088307389701200703
- Parisi M, Glass I. Joubert Syndrome. 2003 Jul 9 [Updated 2017 Jun 29]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1116/
- Doherty D. Joubert syndrome: Insights into brain development, cilium biology, and complex disease. Seminars in Pediatric Neurology. 2009;16(3):143–54. doi: 10.1016/j.spen.2009.06.002
- Romani M, Micalizzi A, Valente EM. Joubert syndrome: Congenital cerebellar ataxia with the molar tooth. The Lancet Neurology. 2013;12(9):894–905. doi: 10.1016/S1474-4422(13)70136-4
- Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue TC, et al. Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics. 2015;52(8):514–22. doi: 10.1136/jmedgenet-2015-103087
- Kroes HY, Fransen van de Putte DE, Ravesloot CJ, Lindhout D. The birth prevalence of Joubert syndrome: A population based study in the Netherlands. European Journal of Human Genetics. 2007; 15 (Suppl. 1):68 (abstr. PO149). Available from: https://www.researchgate.net/publication/46694267_The_birth_prevalence_of_Joubert_syndrome_a_population_based_study_in_the_Netherlands
- Parisi MA, Glass IA. Joubert syndrome In: GeneReviews at GeneTests-GeneClinics: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 2003. Retrieved from http://www.geneclinics.org or http://www.genetests.org
- Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, et al. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am J Hum Genet. 2010;86(1):93-7. doi: 10.1016/j.ajhg.2009
- Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, et al. Joubert syndrome in french canadians and identification of mutations in CEP104. Am J Hum Genet. 2015;97(5):744-53. doi: 10.1016/j.ajhg.2015.09.009
- Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, et al. Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet. 2012;49(10):636-41. doi: 10.1136/jmedgenet-2012-101132
- Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, et al. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet. 2012;90(4):693-700. doi: 10.1016/j.ajhg.2012.02.011
- Reiter JF, Leroux MR. Genes and molecular pathways underpinning ciliopathies. Nature Reviews Molecular Cell Biology. 2017;18(9):533–47. doi: 10.1038/nrm.2017.60
- 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(12):1937-52. doi: 10.1016/j.ophtha.2018.05.026
- Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, et al. Molecular genetic analysis of 30 families with Joubert syndrome. Clin Genet. 2016;90(6):526-35. doi: 10.1111/cge.12836
- Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, et al. ARL3 mutations cause joubert syndrome by disrupting ciliary protein composition. Am J Hum Genet. 2018;103(4):612-20. doi: 10.1016/j.ajhg.2018.08.015
- Wang SF, Kowal TJ, Ning K, Koo EB, Wu AY, Mahajan VB, et al. Review of Ocular Manifestations of Joubert Syndrome. Genes (Basel). 2018;9(12):605. doi: 10.3390/genes9120605
- Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, et al. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010;47(1):8-21. doi: 10.1136/jmg.2009.067249
- Hildebrandt F, Strahm B, Nothwang HG, Gretz N, Schnieders B, Singh-Sawhney I, et al. Molecular genetic identification of families with juvenile nephronophthisis type 1: Rate of progression to renal failure. APN Study Group. Arbeitsgemeinschaft fur Padiatrische Nephrologie. Kidney Int. 1997;51(1):261-9. doi: 10.1038/ki.1997.31
- 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(12):1962-73. doi: 10.2215/CJN.05660517.
- Srivastava S, Molinari E, Raman S, Sayer JA. Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders. Front Pediatr. 2018;5:287. doi: 10.3389/fped.2017.00287
- Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20
- Parisi MA. Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet. 2009;151C(4):326-40. doi: 10.1002/ajmg.c.30229
- Gunay-Aygun M. Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet. 2009;151C(4):296-306. doi: 10.1002/ajmg.c.30225
- Senocak EU, Oğuz KK, Haliloğlu G, Topçu M, Cila A. Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders. Diagn Interv Radiol. 2010;16(1):3-6. doi: 10.4261/1305-3825.DIR.2673-09.1
- Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, et al. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012
- Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung BY, et al. Co-occurrence of Joubert syndrome and Jeune asphyxiating thoracic dystrophy. Am J Med Genet A. 2010;152A(6):1411-9. doi: 10.1002/ajmg.a.33416
- Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, etal. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet. 2015;24(5):1410-9. doi: 10.1093/hmg/ddu555
- Parisi MA. The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. Transl Sci Rare Dis. 2019;4(1-2):25-49. doi: 10.3233/TRD-190041
- Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E. Molar tooth sign in Joubert syndrome: Clinical, radiologic, and pathologic significance. J Child Neurol. 1999;14(6):368-76. doi: 10.1177/088307389901400605
- Quarello E, Molho M, Garel C, Couture A, Legac MP, Moutard ML, et al. Prenatal abnormal features of the fourth ventricle in Joubert syndrome and related disorders. Ultrasound Obstet Gynecol. 2014;43(2):227-32. doi: 10.1002/uog.12567
- Summers AC, Snow J, Wiggs E, Liu AG, Toro C, Poretti A, Zein WM, Brooks BP, Parisi MA, Inati S, Doherty D, Vemulapalli M, Mullikin JC; NISC Comparative Sequencing Program, Vilboux T, Gahl WA, Gunay-Aygun M. Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. Am J Med Genet A. 2017;173(7):17961812. doi: 10.1002/ajmg.a.38272
- Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999;14(9):583-90. doi: 10.1177/088307389901400906
- Dempsey JC, Phelps IG, Bachmann-Gagescu R, Glass IA, Tully HM, Doherty D. Mortality in Joubert syndrome. Am J Med Genet A. 2017;173(5):1237-42. doi: 10.1002/ajmg.a.38158
- Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane 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(8):875-82. doi: 10.1038/gim.2016.204
- Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, et al. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Am J Hum Genet. 2011;89(6): 713-30. doi: 10.1016/j.ajhg.2011.11.005
- Dehghani M, Mojarad M, Ghayoor Karimiani E, Vahidi Mehrjardi MY, Sahebalzamani A, Ashrafzadeh F, et al. A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. Public Health Genomics. 2017;20(3):188-93. doi: 10.1159/000477560
- Müller RU, Haas CS, Sayer JA. Practical approaches to the management of autosomal dominant polycystic kidney disease patients in the era of tolvaptan. Clin Kidney J. 2018;11(1): 62-9. doi: 10.1093/ckj/sfx071
- 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(49):12489-494. doi: 10.1073/pnas.1809432115
- Dooley SJ, McDougald DS, Fisher KJ, Bennicelli JL, Mitchell LG, Bennett J. Spliceosome-mediated Pre-mRNA trans-splicing can repair CEP290 mRNA. Mol Ther Nucleic Acids. 2018;12: 294-308. doi: 10.1016/j.omtn.2018.05.014
- Chen HY, Welby E, Li T, Swaroop A. Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies. Transl Sci Rare Dis. 2019;4(1-2):97-115. doi: 10.3233/TRD-190038
- Molinari E, Sayer J. Using human urine-derived renal epithelial cells to model kidney disease in inherited ciliopathies. Translational Science of Rare Diseases, 2019;4(1-2):87-95. DOI 10.3233/TRD-190034
- Spahiu L, Sayer JA, Behluli E, Liehr T, Temaj G. Case Report: Identification of likely recurrent CEP290 mutation in a child with Joubert syndrome and cerebello-retinal-renal features. [version 1; peer review: awaiting peer review]. [Preprint] F1000Research. 2022;11:388. doi: 10.12688/f1000research.109628.1
- Fraser AM, Davey MG. TALPID3 in Joubert syndrome and related ciliopathy disorders. Curr Opin Genet Dev. 2019; 56: 41-8. doi: 10.1016/j.gde.2019.06.010
- Pauli S, Altmüller J, Schröder S, Ohlenbusch A, Dreha-Kulaczewski S, Bergmann C, et al. Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome. J Med Genet. 2019;56(4):261-4. doi: 10.1136/jmedgenet-2018-105470
- Kawaguchi T, Yoshida T, Hirahashi J, Uehara T, Takenouchi T, Kosaki K, et al. Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation. Nephron. 2018;140(1):74-78. doi: 10.1159/000490770
- Radha Rama Devi A, Naushad SM, Lingappa L. Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatr Neurol. 2020;106:43-9. doi: 10.1016/j.pediatr-neurol.2020.01.012.
- Hardee I, Soldatos A, Davids M, Vilboux T, Toro C, David KL, et al. Defective ciliogenesis in INPP5E-related Joubert syndrome. Am J Med Genet A. 2017;173(12):3231-7. doi: 10.1002/ajmg.a.38376
- Collard E, Byrne C, Georgiou M, Michaelides M, Dixit A. Joubert syndrome diagnosed renally late. Clin Kidney J. 2020;14(3):10179. doi: 10.1093/ckj/sfaa007
- Chafai-Elalaoui S, Chalon M, Elkhartoufi N, Kriouele Y, Mansouri M, Attié-Bitach T, et al. A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report. J Med Case Rep. 2015;9:254. doi: 10.1186/s13256-015-0732-3
- Karamzade A, Babaei M, Saberi M, Golchin N, Khalil Nejad Sani Banaei A, Eshaghkhani Y, et al. Identification of a novel truncating variant in AHI1 gene and a brief review on mutations spectrum. Mol Biol Rep. 2021;48(6):5339-45. doi: 10.1007/s11033-021-06508-5
- Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, et al. Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. Mol Vis. 2015;21:477-86. Available from: http://www.molvis.org/molvis/v21/477
- Ben-Salem S, Al-Shamsi AM, Gleeson JG, Ali BR, Al-Gazali L. Mutation spectrum of Joubert syndrome and related disorders among Arabs. Hum Genome Var. 2014;1:14020. doi: 10.1038/hgv.2014.20. Erratum in: Hum Genome Var. 2015;2:15001.
- Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, et al. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010;42(7):619-25. doi: 10.1038/ng.594
- Bachmann-Gagescu R, Dempsey JC, Bulgheroni S, Chen ML, D’Arrigo S, Glass IA, et al. Healthcare recommendations for Joubert syndrome. Am J Med Genet A. 2020;182(1):229-49. doi: 10.1002/ajmg.a.61399
- Hoefele J, Wolf MT, O’Toole JF, Otto EA, Schultheiss U, Dêschenes G, et al. Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol. 2007;18(10):2789–95. doi: 10.1681/ASN.2007020243
- Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, et al. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science. 2001;293(5538): 2256–9. doi: 10.1126/science.1063525
- Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, et al. In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet. 2012;20(4):420–7. doi: 10.1038/ejhg.2011.205
- Phelps IG, Dempsey JC, Grout ME, Isabella CR, Tully HM, Doherty D, et al. Interpreting the clinical significance of combined variants in multiple recessive disease genes: Systematic investigation of Joubert syndrome yields little support for oligogenicity. Genet Med. 2018;20(2):223–33. doi: 10.1038/gim.2017.94.