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Healthcare recommendations for Joubert syndrome

Ruxandra Bachmann-Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D'Arrigo, Ian A. Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay-Aygun, Enza Maria Valente, Dan Doherty

Am J Med Genet A. Author manuscript; available in PMC 2020 Nov 21.

Published in final edited form as: Am J Med Genet A. 2020 Jan; 182(1): 229–249. Published online 2019 Nov 11. doi: 10.1002/ajmg.a.61399

PMCID:: PMC7679947

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The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity

Melissa A. Parisi

Transl Sci Rare Dis. 2019; 4(1-2): 25–49. Published online 2019 Jul 4. doi: 10.3233/TRD-190041

PMCID:: PMC6864416

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Select item 47765903.

Joubert syndrome with autism in two siblings: A rare presentation

D. Vijaya Raghavan, V. Vimal Doshi, Shanthi Nambi

Indian J Psychiatry. 2016 Jan-Mar; 58(1): 90–92. doi: 10.4103/0019-5545.174395

PMCID:: PMC4776590

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Prospective Evaluation of Kidney Disease in Joubert Syndrome

Leah R. Fleming, Daniel A. Doherty, Melissa A. Parisi, Ian A. Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C. Mullikin, May Christine Malicdan, Thierry Vilboux, John A. Sayer, William A. Gahl, Meral Gunay-Aygun

Clin J Am Soc Nephrol. 2017 Dec 7; 12(12): 1962–1973. Published online 2017 Nov 16. doi: 10.2215/CJN.05660517

PMCID:: PMC5718273

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Review of Ocular Manifestations of Joubert Syndrome

Stephanie F. Wang, Tia J. Kowal, Ke Ning, Euna B. Koo, Albert Y. Wu, Vinit B. Mahajan, Yang Sun

Genes (Basel) 2018 Dec; 9(12): 605. Published online 2018 Dec 4. doi: 10.3390/genes9120605

PMCID:: PMC6315342

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Joubert Syndrome: The Molar Tooth Sign of the Mid-Brain

C Nag, M Ghosh, K Das, TN Ghosh

Ann Med Health Sci Res. 2013 Apr-Jun; 3(2): 291–294. doi: 10.4103/2141-9248.113686

PMCID:: PMC3728883

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Interpreting the clinical significance of combined variants in multiple recessive disease genes: Systematic investigation of Joubert Syndrome yields little support for oligogenicity

Ian G. Phelps, Jennifer C. Dempsey, Megan E. Grout, Christine R. Isabella, Hannah M. Tully, Dan Doherty, Ruxandra Bachmann-Gagescu

Genet Med. Author manuscript; available in PMC 2018 Feb 23.

Published in final edited form as: Genet Med. 2018 Feb; 20(2): 223–233. Published online 2017 Aug 3. doi: 10.1038/gim.2017.94

PMCID:: PMC5797514

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MKS1 regulates ciliary INPP5E levels in Joubert syndrome

Gisela G. Slaats, Christine R. Isabella, Hester Y. Kroes, Jennifer C. Dempsey, Hendrik Gremmels, Glen R. Monroe, Ian G. Phelps, Karen J. Duran, Jonathan Adkins, Sairam A. Kumar, Dana M. Knutzen, Nine V. Knoers, Nancy J. Mendelsohn, David Neubauer, Sotiria D. Mastroyianni, Julie Vogt, Lisa Worgan, Natalya Karp, Sarah Bowdin, Ian A. Glass, Melissa A. Parisi, Edgar A. Otto, Colin A. Johnson, Friedhelm Hildebrandt, Gijs van Haaften, Rachel H. Giles, Dan Doherty

J Med Genet. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: J Med Genet. 2016 Jan; 53(1): 62–72. Published online 2015 Oct 21. doi: 10.1136/jmedgenet-2015-103250

PMCID:: PMC5060087

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Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

Yue Shen, Hao Wang, Zhimin Liu, Minna Luo, Siyu Ma, Chao Lu, Zongfu Cao, Yufei Yu, Ruikun Cai, Cuixia Chen, Qian Li, Huafang Gao, Yun Peng, Baoping Xu, Xu Ma

BMC Med Genet. 2020; 21: 192. Published online 2020 Oct 1. doi: 10.1186/s12881-020-01130-x

PMCID:: PMC7531107

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Prenatal Diagnosis and Genetic Analysis of a Fetus with Joubert Syndrome

Jingjing Xiang, Lili Zhang, Wei Jiang, Qin Zhang, Ting Wang, Haibo Li, Hong Li

Biomed Res Int. 2018; 2018: 7202168. Published online 2018 May 31. doi: 10.1155/2018/7202168

PMCID:: PMC6000882

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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

Julie C. Van De Weghe, Tamara D.S. Rusterholz, Brooke Latour, Megan E. Grout, Kimberly A. Aldinger, Ranad Shaheen, Jennifer C. Dempsey, Sateesh Maddirevula, Yong-Han H. Cheng, Ian G. Phelps, Matthias Gesemann, Himanshu Goel, Ohad S. Birk, Talal Alanzi, Rifaat Rawashdeh, Arif O. Khan, University of Washington Center for Mendelian Genomics, Michael J. Bamshad, Deborah A. Nickerson, Stephan C.F. Neuhauss, William B. Dobyns, Fowzan S. Alkuraya, Ronald Roepman, Ruxandra Bachmann-Gagescu, Dan Doherty

Am J Hum Genet. 2017 Jul 6; 101(1): 23–36. Published online 2017 Jun 15. doi: 10.1016/j.ajhg.2017.05.010

PMCID:: PMC5501774

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Clinical and molecular features of Joubert syndrome and related disorders

Melissa A. Parisi

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2009 Dec 24.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2009 Nov 15; 151C(4): 326–340. doi: 10.1002/ajmg.c.30229

PMCID:: PMC2797758

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Joubert syndrome: A model for untangling recessive disorders with extreme genetic heterogeneity

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O’Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O’Day D, Alswaid A, Devi AR, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass I, Shendure J, Doherty D

J Med Genet. Author manuscript; available in PMC 2016 Oct 27.

Published in final edited form as: J Med Genet. 2015 Aug; 52(8): 514–522. Published online 2015 Jun 19. doi: 10.1136/jmedgenet-2015-103087

PMCID:: PMC5082428

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Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome

Minna Luo, Ruida He, Zaisheng Lin, Yue Shen, Guangyu Zhang, Zongfu Cao, Chao Lu, Dan Meng, Jing Zhang, Xu Ma, Muqing Cao

Front Genet. 2020; 11: 576235. Published online 2020 Oct 14. doi: 10.3389/fgene.2020.576235

PMCID:: PMC7592398

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Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency

Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M. Sinclair, Deniz Yildirimli, Dawn M. Maynard, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C. Mullikin, NISC Comparative Sequencing Program, Marjan Huizing, William A. Gahl, May Christine V. Malicdan, Meral Gunay-Aygun

Hum Genet. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Hum Genet. 2017 Apr; 136(4): 399–408. Published online 2017 Feb 20. doi: 10.1007/s00439-017-1765-z

PMCID:: PMC5395200

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Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

Rama Rao Damerla, Cheng Cui, George C. Gabriel, Xiaoqin Liu, Branch Craige, Brian C. Gibbs, Richard Francis, You Li, Bishwanath Chatterjee, Jovenal T. San Agustin, Thibaut Eguether, Ramiah Subramanian, George B. Witman, Jacques L. Michaud, Gregory J. Pazour, Cecilia W. Lo

Hum Mol Genet. 2015 Jul 15; 24(14): 3994–4005. Published online 2015 Apr 15. doi: 10.1093/hmg/ddv137

PMCID:: PMC4476446

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Select item 335002117.

Joubert Syndrome Presenting with Motor Delay and Oculomotor Apraxia

Harjinder Gill, Brinda Muthusamy, Denize Atan, Cathy Williams, Matthew Ellis

Case Rep Pediatr. 2011; 2011: 262641. Published online 2012 Jan 26. doi: 10.1155/2011/262641

PMCID:: PMC3350021

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Select item 128837718.

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity

Kathrin Saar, Lihadh Al-Gazali, László Sztriha, Franz Rueschendorf, Mohammed Nur-E-Kamal, André Reis, Riad Bayoumi

Am J Hum Genet. 1999 Dec; 65(6): 1666–1671. Published online 1999 Nov 22. doi: 10.1086/302655

PMCID:: PMC1288377

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Select item 380905819.

Joubert syndrome: congenital cerebellar ataxia with the “molar tooth”

Marta Romani, Alessia Micalizzi, Enza Maria Valente

Lancet Neurol. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: Lancet Neurol. 2013 Sep; 12(9): 10.1016/S1474-4422(13)70136-4. Published online 2013 Jul 17. doi: 10.1016/S1474-4422(13)70136-4

PMCID:: PMC3809058

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Select item 568223320.

Neuropsychological Phenotypes of 76 Individuals with Joubert Syndrome evaluated at a Single Center

Angela C. Summers, Joseph Snow, Edythe Wiggs, Alexander G. Liu, Camilo Toro, Andrea Poretti, Wadih M. Zein, Brian P. Brooks, Melissa A. Parisi, Sara Inati, Dan Doherty, Meghana Vemulapalli, Jim C. Mullikin, NISC Comparative Sequencing Program, Thierry Vilboux, William A. Gahl, Meral Gunay-Aygun

Am J Med Genet A. Author manuscript; available in PMC 2018 Nov 12.

Published in final edited form as: Am J Med Genet A. 2017 Jul; 173(7): 1796–1812. Published online 2017 May 12. doi: 10.1002/ajmg.a.38272

PMCID:: PMC5682233

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Figure 1

Genotype–phenotype correlates in Joubert syndrome (JS) and Joubert syndrome and related disorders. CORS, cerebellar-ocular-renal syndrome; SLS, Senior-Løken syndrome; LCA, Leber congenital amaurosis; NPHP, nephronophthisis. Genes with major effect are in bold, other genes contributing to each phenotype are listed as well.

The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders

Dev Med Child Neurol. ;53(9):793-798.
Figure 1

MRI of one patient with Joubert Syndrome

Joubert syndrome: Clinical and radiological characteristics of nine patients

Ann Indian Acad Neurol. 2013 Apr-Jun;16(2):239-244.
Figure 1

Spleen Length/Height (SL/H) ratios of the Joubert syndrome cohort plotted against age. Blue dots represent SL/H ratios of Joubert syndrome patients. Patients with SL/H ratios above the dotted line (upper limit of normal SL/H ratio) were considered as having splenomegaly.

Characteristics of liver disease in 100 Individuals with Joubert syndrome prospectively evaluated at a single center

J Pediatr Gastroenterol Nutr. ;66(3):428-435.
Figure 1

Case 1: cranial MRI showing “molar tooth sign” (arrows), which is a classic finding in Joubert syndrome.

Ocular findings in two siblings with Joubert syndrome

Clin Ophthalmol. 2014;8:229-233.