Joubert syndrome and related disorders

Definition:

Joubert syndrome (JBTS) and related disorders are a group of multiple congenital anomaly syndromes characterized by 'molar tooth sign', a specific midbrain-hindbrain malformation seen in brain images. JBTS is associated with retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Most of the causative genes encode cilium-related proteins.

References:

[1]. Abdul Noor, et al. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet. 2008 Apr;82(4):1011-8. [Content Brief]

[2]. Anna A W M Sanders, et al. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol. 2015 Dec 29;16:293. [Content Brief]

[3]. Brooke L Latour, et al. Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest. 2020 Aug 3;130(8):4423-4439. [Content Brief]

[4]. Claudia Dafinger, et al. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011 Jul;121(7):2662-7. [Content Brief]

[5]. Erica E Davis, et al. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet. 2011 Mar;43(3):189-96. [Content Brief]

[6]. Francesc R Garcia-Gonzalo, et al. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet. 2011 Jul 3;43(8):776-84. [Content Brief]

[7]. Francesco Brancati, et al. Joubert Syndrome and related disorders. Orphanet J Rare Dis. 2010 Jul 8;5:20. [Content Brief]

[8]. Gabrielle Wheway, et al. An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. Nat Cell Biol. 2015 Aug;17(8):1074-1087. [Content Brief]

[9]. Jeong Ho Lee, et al. Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. Science. 2012 Feb 24;335(6071):966-9. [Content Brief]

[10]. Ji Eun Lee, et al. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet. 2012 Jan 15;44(2):193-9. [Content Brief]

[11]. John A Sayer, et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet. 2006 Jun;38(6):674-81. [Content Brief]

[12]. Joshi Stephen, et al. Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. Hum Genet. 2017 Apr;136(4):399-408. [Content Brief]

[13]. Julie C Van De Weghe, et al. Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017 Jul 6;101(1):23-36. [Content Brief]

[14]. Julie C Van De Weghe, et al. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. HGG Adv. 2021 Jan 14;2(1):100016. [Content Brief]

[15]. Karlien L M Coene, et al. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet. 2009 Oct;85(4):465-81. [Content Brief]

[16]. Lekbir Baala, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 2007 Jan;80(1):186-94. [Content Brief]

[17]. Lijia Huang, 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 Dec 9;89(6):713-30. [Content Brief]

[18]. Liyun Sang, et al. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. Cell. 2011 May 13;145(4):513-28. [Content Brief]

[19]. Marion Delous, et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul;39(7):875-81. [Content Brief]

[20]. Marta Romani, et al. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J Rare Dis. 2014 May 5;9:72. [Content Brief]

[21]. Melissa A Parisi, 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 Jul;75(1):82-91. [Content Brief]

[22]. Minna Luo, et al. Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome. Genet Med. 2021 Jun;23(6):1041-1049. [Content Brief]

[23]. Moumita Chaki, et al. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell. 2012 Aug 3;150(3):533-48. [Content Brief]

[24]. Myriam Srour, et al. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Am J Hum Genet. 2015 Nov 5;97(5):744-53. [Content Brief]

[25]. Myriam Srour, et al. Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. Am J Hum Genet. 2012 Apr 6;90(4):693-700. [Content Brief]

[26]. Myriam Srour, et al. Mutations in TMEM231 cause Joubert syndrome in French Canadians. J Med Genet. 2012 Oct;49(10):636-41. [Content Brief]

[27]. Naiara Akizu, et al. Mutations in CSPP1 lead to classical Joubert syndrome. Am J Hum Genet. 2014 Jan 2;94(1):80-6. [Content Brief]

[28]. Nils J Lambacher, et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat Cell Biol. 2016 Jan;18(1):122-31. [Content Brief]

[29]. R Bachmann-Gagescu, et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet. 2015 Aug;52(8):514-22. [Content Brief]

[30]. Ranad Shaheen, et al. Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. Am J Hum Genet. 2019 Apr 4;104(4):731-737. [Content Brief]

[31]. Roberta De Mori, et al. Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. Am J Hum Genet. 2017 Oct 5;101(4):552-563. [Content Brief]

[32]. Russell J Ferland, et al. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet. 2004 Sep;36(9):1008-13. [Content Brief]

[33]. Ruxandra Bachmann-Gagescu, et al. KIAA0586 is Mutated in Joubert Syndrome. Hum Mutat. 2015 Sep;36(9):831-5. [Content Brief]

[34]. Samantha A Brugmann, et al. Craniofacial ciliopathies: A new classification for craniofacial disorders. Am J Med Genet A. 2010 Dec;152A(12):2995-3006. [Content Brief]

[35]. Simon Edvardson, et al. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am J Hum Genet. 2010 Jan;86(1):93-7. [Content Brief]

[36]. Sophie Thomas, et al. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat. 2014 Jan;35(1):137-46. [Content Brief]

[37]. Sophie Thomas, et al. TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet. 2012 Aug 10;91(2):372-8. [Content Brief]

[38]. Stephanie L Bielas, et al. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. Nat Genet. 2009 Sep;41(9):1032-6. [Content Brief]

[39]. Sumaya Alkanderi, et al. ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. Am J Hum Genet. 2018 Oct 4;103(4):612-620. [Content Brief]

[40]. Susanne Roosing, et al. Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. J Med Genet. 2016 Sep;53(9):608-15. [Content Brief]

[41]. Vincent Cantagrel, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug;83(2):170-9. [Content Brief]

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