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Gene Review

JBTS1  -  Joubert syndrome 1

Homo sapiens

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Disease relevance of JBTS1

  • Joubert syndrome (JS) is an autosomal recessive developmental brain condition characterized by hypoplasia/dysplasia of the cerebellar vermis and by ataxia, hypotonia, oculomotor apraxia, and neonatal breathing dysregulation [1].
  • A form of JS that includes retinal dysplasia and cystic dysplastic kidneys has been differentiated from other forms of JS, called either "JS type B" or "cerebello-oculo-renal syndrome" (CORS), but the genetic basis of this condition is unknown [1].
  • BACKGROUND: Joubert syndrome (JS) is a recessively inherited disorder characterised by hypotonia at birth and developmental delay, followed by truncal ataxia and cognitive impairment, characteristic neuroimaging findings (cerebellar vermis hypoplasia, "molar tooth sign") and suggestive facial features [2].
  • JS is clinically heterogeneous with some patients presenting with breathing abnormalities in the neonatal period, oculomotor apraxia, retinal dystrophy, retinal coloboma, ptosis, hexadactyly, and nephronophtisis or cystic dysplastic kidneys [2].
  • The molecular basis of nephronophthisis, the most frequent genetic cause of renal failure in children and young adults, and its association with retinal degeneration and cerebellar vermis aplasia in Joubert syndrome are poorly understood [3].

Psychiatry related information on JBTS1


High impact information on JBTS1


Chemical compound and disease context of JBTS1


Biological context of JBTS1

  • Here, we describe a large consanguineous family with JS and nephronophthisis, representing a novel cerebello-renal phenotype [11].
  • We conclude that Joubert syndrome is clinically and genetically heterogeneous and that one locus maps to chromosome 9q [12].
  • 7. The second family did not show linkage to this region, giving a first indication of genetic heterogeneity underlying Joubert syndrome [12].
  • Here, we identify two frameshift mutations and one missense mutation in the AHI1 gene in three consanguineous families with JS, some with cortical polymicrogyria [13].
  • Analysis of an additional 21 unrelated JS patients showed no evidence of homozygosity at the 9q34 and 17p11.2 loci that would suggest inheritance of founder JS mutation(s) or unreported consanguinity [14].

Anatomical context of JBTS1


Associations of JBTS1 with chemical compounds


Other interactions of JBTS1

  • JS is also genetically heterogeneous, with two known loci, on 9q34 (JBTS1) and 11p11-q12 (CORS2), representing only a fraction of cases [2].
  • Furthermore, the mapping assignment and the expression pattern make BARHL1 an attractive positional candidate gene for a form of Joubert syndrome, a rare developmental anomaly of the cerebellum in humans [22].
  • A search for mutations in WNT1 in a series of patients with Joubert syndrome did not detect mutations at this locus [23].
  • Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene [24].
  • Over three decades have passed since Marie Joubert described the original proband for Joubert syndrome, a rare neurological disorder featuring absence of the cerebellar vermis (i.e. midline) [25].

Analytical, diagnostic and therapeutic context of JBTS1


  1. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Keeler, L.C., Marsh, S.E., Leeflang, E.P., Woods, C.G., Sztriha, L., Al-Gazali, L., Gururaj, A., Gleeson, J.G. Am. J. Hum. Genet. (2003) [Pubmed]
  2. Homozygosity mapping of a third Joubert syndrome locus to 6q23. Lagier-Tourenne, C., Boltshauser, E., Breivik, N., Gribaa, M., Bétard, C., Barbot, C., Koenig, M. J. Med. Genet. (2004) [Pubmed]
  3. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Sayer, J.A., Otto, E.A., O'Toole, J.F., Nurnberg, G., Kennedy, M.A., Becker, C., Hennies, H.C., Helou, J., Attanasio, M., Fausett, B.V., Utsch, B., Khanna, H., Liu, Y., Drummond, I., Kawakami, I., Kusakabe, T., Tsuda, M., Ma, L., Lee, H., Larson, R.G., Allen, S.J., Wilkinson, C.J., Nigg, E.A., Shou, C., Lillo, C., Williams, D.S., Hoppe, B., Kemper, M.J., Neuhaus, T., Parisi, M.A., Glass, I.A., Petry, M., Kispert, A., Gloy, J., Ganner, A., Walz, G., Zhu, X., Goldman, D., Nurnberg, P., Swaroop, A., Leroux, M.R., Hildebrandt, F. Nat. Genet. (2006) [Pubmed]
  4. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Parisi, M.A., Bennett, C.L., Eckert, M.L., Dobyns, W.B., Gleeson, J.G., Shaw, D.W., McDonald, R., Eddy, A., Chance, P.F., Glass, I.A. Am. J. Hum. Genet. (2004) [Pubmed]
  5. Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis. Holroyd, S., Reiss, A.L., Bryan, R.N. Biol. Psychiatry (1991) [Pubmed]
  6. Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. Van Balkom, I.D., Quartel, S., Hennekam, R.C. Am. J. Med. Genet. (1998) [Pubmed]
  7. Parenting stress and its relationship to the behavior of children with joubert syndrome. Farmer, J.E., Deidrick, K.M., Gitten, J.C., Fennell, E.B., Maria, B.L. J. Child Neurol. (2006) [Pubmed]
  8. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Ferland, R.J., Eyaid, W., Collura, R.V., Tully, L.D., Hill, R.S., Al-Nouri, D., Al-Rumayyan, A., Topcu, M., Gascon, G., Bodell, A., Shugart, Y.Y., Ruvolo, M., Walsh, C.A. Nat. Genet. (2004) [Pubmed]
  9. The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert Syndrome. Baala, L., Romano, S., Khaddour, R., Saunier, S., Smith, U.M., Audollent, S., Ozilou, C., Faivre, L., Laurent, N., Foliguet, B., Munnich, A., Lyonnet, S., Salomon, R., Encha-Razavi, F., Gubler, M.C., Boddaert, N., Lonlay, P., Johnson, C.A., Vekemans, M., Antignac, C., Attie-Bitach, T. Am. J. Hum. Genet. (2007) [Pubmed]
  10. Anesthetic management in Joubert syndrome. Vodopich, D.J., Gordon, G.J. Paediatric anaesthesia. (2004) [Pubmed]
  11. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Valente, E.M., Salpietro, D.C., Brancati, F., Bertini, E., Galluccio, T., Tortorella, G., Briuglia, S., Dallapiccola, B. Am. J. Hum. Genet. (2003) [Pubmed]
  12. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Saar, K., Al-Gazali, L., Sztriha, L., Rueschendorf, F., Nur-E-Kamal, M., Reis, A., Bayoumi, R. Am. J. Hum. Genet. (1999) [Pubmed]
  13. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Dixon-Salazar, T., Silhavy, J.L., Marsh, S.E., Louie, C.M., Scott, L.C., Gururaj, A., Al-Gazali, L., Al-Tawari, A.A., Kayserili, H., Sztriha, L., Gleeson, J.G. Am. J. Hum. Genet. (2004) [Pubmed]
  14. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Blair, I.P., Gibson, R.R., Bennett, C.L., Chance, P.F. Am. J. Med. Genet. (2002) [Pubmed]
  15. Distinguishing the four genetic causes of Jouberts syndrome-related disorders. Valente, E.M., Marsh, S.E., Castori, M., Dixon-Salazar, T., Bertini, E., Al-Gazali, L., Messer, J., Barbot, C., Woods, C.G., Boltshauser, E., Al-Tawari, A.A., Salpietro, C.D., Kayserili, H., Sztriha, L., Gribaa, M., Koenig, M., Dallapiccola, B., Gleeson, J.G. Ann. Neurol. (2005) [Pubmed]
  16. Human malformations of the midbrain and hindbrain: review and proposed classification scheme. Parisi, M.A., Dobyns, W.B. Mol. Genet. Metab. (2003) [Pubmed]
  17. Ritscher-Schinzel (3C) syndrome: documentation of the phenotype. Kosaki, K., Curry, C.J., Roeder, E., Jones, K.L. Am. J. Med. Genet. (1997) [Pubmed]
  18. Brain stem and cerebellar findings in Joubert syndrome. Alorainy, I.A., Sabir, S., Seidahmed, M.Z., Farooqu, H.A., Salih, M.A. Journal of computer assisted tomography. (2006) [Pubmed]
  19. "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. Maria, B.L., Hoang, K.B., Tusa, R.J., Mancuso, A.A., Hamed, L.M., Quisling, R.G., Hove, M.T., Fennell, E.B., Booth-Jones, M., Ringdahl, D.M., Yachnis, A.T., Creel, G., Frerking, B. J. Child Neurol. (1997) [Pubmed]
  20. Mitochondrial dysfunction in a patient with Joubert syndrome. Morava, E., Dinopoulos, A., Kroes, H.Y., Rodenburg, R.J., van Bokhoven, H., van den Heuvel, L.P., Smeitink, J.A. Neuropediatrics. (2005) [Pubmed]
  21. The role of 99mTc DMSA renal scintigraphy in Joubert syndrome. Kara Gedik, G., Lay Ergün, E., Fani Bozkurt, M. Revista española de medicina nuclear. (2006) [Pubmed]
  22. Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS. Bulfone, A., Menguzzato, E., Broccoli, V., Marchitiello, A., Gattuso, C., Mariani, M., Consalez, G.G., Martinez, S., Ballabio, A., Banfi, S. Hum. Mol. Genet. (2000) [Pubmed]
  23. Clinical nosologic and genetic aspects of Joubert and related syndromes. Chance, P.F., Cavalier, L., Satran, D., Pellegrino, J.E., Koenig, M., Dobyns, W.B. J. Child Neurol. (1999) [Pubmed]
  24. Joubert syndrome: a haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene. Bennett, C.L., Parisi, M.A., Eckert, M.L., Huynh, H.M., Chance, P.F., Glass, I.A. Am. J. Med. Genet. A (2004) [Pubmed]
  25. Genetic basis of Joubert syndrome and related disorders of cerebellar development. Louie, C.M., Gleeson, J.G. Hum. Mol. Genet. (2005) [Pubmed]
  26. Prenatal diagnosis for Joubert syndrome? Foubister, V. Drug Discov. Today (2004) [Pubmed]
  27. Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study. Parisi, M.A., Pinter, J.D., Glass, I.A., Field, K., Maria, B.L., Chance, P.F., Mahurin, R.K., Cramer, S.C. J. Child Neurol. (2004) [Pubmed]
  28. Joubert syndrome: early diagnosis by recognition of the behavioral phenotype and confirmation by cranial sonography. Edwards, B.O., Fischer, A.Q., Flannery, D.B. J. Child Neurol. (1988) [Pubmed]
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