KEGG   DISEASE: H00530Help
Entry
H00530                      Disease                                

Name
Joubert syndrome
Description
Joubert syndrome 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. Joubert syndrome is associated with retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Most of the causative genes encode cilium-related proteins.
Category
Developmental disorder
BRITE hierarchy
Pathway
Inositol phosphate metabolism
Phosphatidylinositol signaling system
Gene
(JBTS1) INPP5E [HSA:56623] [KO:K01099]
(JBTS2) TMEM216 [HSA:51259]
(JBTS3) AHI1 [HSA:54806] [KO:K16740]
(JBTS4) NPHP1 (deletion) [HSA:4867]
(JBTS5) CEP290 [HSA:80184] [KO:K16533]
(JBTS6) TMEM67 [HSA:91147]
(JBTS7) RPGRIP1L [HSA:23322] [KO:K16550]
(JBTS8) ARL13B [HSA:200894] [KO:K07962]
(JBTS9) CC2D2A [HSA:57545]
(JBTS10) OFD1 [HSA:8481] [KO:K16480]
(JBTS11) TTC21B [HSA:79809]
(JBTS12) KIF7 [HSA:374654] [KO:K18806]
(JBTS13) TECT1 [HSA:79600]
(JBTS14) TMEM237 [HSA:65062]
(JBTS15) CEP41 [HSA:95681] [KO:K16455]
(JBTS16) TMEM138 [HSA:51524]
(JBTS17) C5orf42 [HSA:65250]
(JBTS18) TCTN3 [HSA:26123]
(JBTS19) ZNF423 [HSA:23090]
(JBTS20) TMEM231 [HSA:79583]
(JBTS21) CSPP1 [HSA:79848] [KO:K16771]
(JBTS22) PDE6D [HSA:5147] [KO:K13758]
Other DBs
Reference
PMID:21108387 (description, gene)
  Authors
Brugmann SA, Cordero DR, Helms JA
  Title
Craniofacial ciliopathies: A new classification for craniofacial disorders.
  Journal
Am J Med Genet A 152A:2995-3006 (2010)
Reference
PMID:20615230 (description, gene)
  Authors
Brancati F, Dallapiccola B, Valente EM
  Title
Joubert Syndrome and related disorders.
  Journal
Orphanet J Rare Dis 5:20 (2010)
Reference
PMID:19668216 (gene)
  Authors
Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG
  Title
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
  Journal
Nat Genet 41:1032-6 (2009)
Reference
  Authors
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG, Gyapay G, Rieger S, Tonshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attie-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N
  Title
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
  Journal
Nat Genet 43:189-96 (2011)
Reference
  Authors
Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nurnberg G, Nurnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ
  Title
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
  Journal
J Clin Invest 121:2662-7 (2011)
Reference
  Authors
Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, Garcia-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF
  Title
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
  Journal
Nat Genet 43:776-84 (2011)
Reference
  Authors
Huang L, Szymanska K, Jensen VL, Janecke AR, Innes AM, Davis EE, Frosk P, Li C, Willer JR, Chodirker BN, Greenberg CR, McLeod DR, Bernier FP, Chudley AE, Muller T, Shboul M, Logan CV, Loucks CM, Beaulieu CL, Bowie RV, Bell SM, Adkins J, Zuniga FI, Ross KD, Wang J, Ban MR, Becker C, Nurnberg P, Douglas S, Craft CM, Akimenko MA, Hegele RA, Ober C, Utermann G, Bolz HJ, Bulman DE, Katsanis N, Blacque OE, Doherty D, Parboosingh JS, Leroux MR, Johnson CA, Boycott KM
  Title
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
  Journal
Am J Hum Genet 89:713-30 (2011)
Reference
  Authors
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attie-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG
  Title
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
  Journal
Nat Genet 44:193-9 (2012)
Reference
  Authors
Lee JH, Silhavy JL, Lee JE, Al-Gazali L, Thomas S, Davis EE, Bielas SL, Hill KJ, Iannicelli M, Brancati F, Gabriel SB, Russ C, Logan CV, Sharif SM, Bennett CP, Abe M, Hildebrandt F, Diplas BH, Attie-Bitach T, Katsanis N, Rajab A, Koul R, Sztriha L, Waters ER, Ferro-Novick S, Woods CG, Johnson CA, Valente EM, Zaki MS, Gleeson JG
  Title
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
  Journal
Science 335:966-9 (2012)
Reference
  Authors
Srour M, Schwartzentruber J, Hamdan FF, Ospina LH, Patry L, Labuda D, Massicotte C, Dobrzeniecka S, Capo-Chichi JM, Papillon-Cavanagh S, Samuels ME, Boycott KM, Shevell MI, Laframboise R, Desilets V, Maranda B, Rouleau GA, Majewski J, Michaud JL
  Title
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
  Journal
Am J Hum Genet 90:693-700 (2012)
Reference
  Authors
Thomas S, Legendre M, Saunier S, Bessieres B, Alby C, Bonniere M, Toutain A, Loeuillet L, Szymanska K, Jossic F, Gaillard D, Yacoubi MT, Mougou-Zerelli S, David A, Barthez MA, Ville Y, Bole-Feysot C, Nitschke P, Lyonnet S, Munnich A, Johnson CA, Encha-Razavi F, Cormier-Daire V, Thauvin-Robinet C, Vekemans M, Attie-Bitach T
  Title
TCTN3 mutations cause Mohr-Majewski syndrome.
  Journal
Am J Hum Genet 91:372-8 (2012)
Reference
  Authors
Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F
  Title
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to  DNA damage response signaling.
  Journal
Cell 150:533-48 (2012)
Reference
  Authors
Srour M, Hamdan FF, Schwartzentruber JA, Patry L, Ospina LH, Shevell MI, Desilets V, Dobrzeniecka S, Mathonnet G, Lemyre E, Massicotte C, Labuda D, Amrom D, Andermann E, Sebire G, Maranda B, Rouleau GA, Majewski J, Michaud JL
  Title
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
  Journal
J Med Genet 49:636-41 (2012)
Reference
  Authors
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG
  Title
Mutations in CSPP1 lead to classical Joubert syndrome.
  Journal
Am J Hum Genet 94:80-6 (2014)
Reference
  Authors
Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attie-Bitach T
  Title
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
  Journal
Hum Mutat 35:137-46 (2014)

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