| H00530 | |
| H number | H00530 |
| Name | Joubert syndrome and related disorders |
| Description | 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. |
| Category | Congenital malformation |
| Network | nt06501(H00530) HH signaling |
| Gene | (JBTS1) INPP5E [HSA:56623] [KO:K20278] (JBTS2) TMEM216 [HSA:51259] [KO:K19385] (JBTS3) AHI1 [HSA:54806] [KO:K16740] (JBTS4) NPHP1 [HSA:4867] [KO:K19657] (JBTS5) CEP290 [HSA:80184] [KO:K16533] (JBTS6) TMEM67 [HSA:91147] [KO:K19348] (JBTS7) RPGRIP1L [HSA:23322] [KO:K16550] (JBTS8) ARL13B [HSA:200894] [KO:K07962] (JBTS9) CC2D2A [HSA:57545] [KO:K19352] (JBTS10) OFD1 [HSA:8481] [KO:K16480] (JBTS11) TTC21B [HSA:79809] [KO:K19673] (JBTS12) KIF7 [HSA:374654] [KO:K18806] (JBTS13) TCTN1 [HSA:79600] [KO:K19382] (JBTS14) TMEM237 [HSA:65062] [KO:K22765] (JBTS15) CEP41 [HSA:95681] [KO:K16455] (JBTS16) TMEM138 [HSA:51524] [KO:K22867] (JBTS17) CPLANE1 [HSA:65250] [KO:K22859] (JBTS18) TCTN3 [HSA:26123] [KO:K19382] (JBTS19) ZNF423 [HSA:23090] [KO:K22870] (JBTS20) TMEM231 [HSA:79583] [KO:K19362] (JBTS21) CSPP1 [HSA:79848] [KO:K16771] (JBTS22) PDE6D [HSA:5147] [KO:K13758] (JBTS23) JBTS23 [HSA:9786] [KO:K22865] (JBTS24) TCTN2 [HSA:79867] [KO:K19361] (JBTS25) CEP104 [HSA:9731] [KO:K16458] (JBTS26) KATNIP [HSA:23247] [KO:K22858] (JBTS27) B9D1 [HSA:27077] [KO:K16744] (JBTS28) MKS1 [HSA:54903] [KO:K19332] (JBTS29) TMEM107 [HSA:84314] [KO:K22764] (JBTS30) ARMC9 [HSA:80210] [KO:K22864] (JBTS31) CEP120 [HSA:153241] [KO:K16459] (JBTS32) SUFU [HSA:51684] [KO:K06229] (JBTS33) PIBF1 [HSA:10464] [KO:K16538] (JBTS34) B9D2 [HSA:80776] [KO:K16745] (JBTS35) ARL3 [HSA:403] [KO:K07944] (JBTS36) FAM149B1 [HSA:317662] [KO:K24653] (JBTS37) TOGARAM1 [HSA:23116] [KO:K24886] (JBTS38) JBTS38 [HSA:9851] [KO:K21765] (JBTS39) TMEM218 [HSA:219854] [KO:K26674] (JBTS40) IFT74 [HSA:80173] [KO:K19679] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD20.00 ICD-10: Q04.3 MeSH: C536293 C536294 C536295 C536296 C537688 C537689 C566916 C567358 C567364 C567582 OMIM: 213300 608091 608629 609583 610188 610688 611560 612291 612285 300804 613820 200990 614173 614424 614464 614465 614615 614815 614844 614970 615636 615665 616490 616654 616781 616784 617120 617121 617562 617622 617761 617757 617767 614175 618161 618763 619185 619476 619562 619582 |
| Reference | PMID:21108387 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) DOI:10.1002/ajmg.a.33727 PMID:20615230 AUTHORS Brancati F, Dallapiccola B, Valente EM TITLE Joubert Syndrome and related disorders. JOURNAL Orphanet J Rare Dis 5:20 (2010) DOI:10.1186/1750-1172-5-20 PMID:19668216 (INPP5E) 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) DOI:10.1038/ng.423 PMID:20036350 (TMEM216) AUTHORS Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O TITLE Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. JOURNAL Am J Hum Genet 86:93-7 (2010) DOI:10.1016/j.ajhg.2009.12.007 PMID:15322546 (AHI1) AUTHORS Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart YY, Ruvolo M, Walsh CA TITLE Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. JOURNAL Nat Genet 36:1008-13 (2004) DOI:10.1038/ng1419 PMID:15138899 (NPHP1) AUTHORS Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA TITLE The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. JOURNAL Am J Hum Genet 75:82-91 (2004) DOI:10.1086/421846 PMID:16682973 (CEP290) AUTHORS Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C, Hennies HC, Helou J, Attanasio M, Fausett BV, Utsch B, Khanna H, Liu Y, Drummond I, Kawakami I, Kusakabe T, Tsuda M, Ma L, Lee H, Larson RG, Allen SJ, Wilkinson CJ, Nigg EA, Shou C, Lillo C, Williams DS, Hoppe B, Kemper MJ, Neuhaus T, Parisi MA, Glass IA, Petry M, Kispert A, Gloy J, Ganner A, Walz G, Zhu X, Goldman D, Nurnberg P, Swaroop A, Leroux MR, Hildebrandt F TITLE The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. JOURNAL Nat Genet 38:674-81 (2006) DOI:10.1038/ng1786 PMID:17160906 (TMEM67) AUTHORS Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T TITLE The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. JOURNAL Am J Hum Genet 80:186-94 (2007) DOI:10.1086/510499 PMID:17558409 (RPGRIP1L) AUTHORS Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Bertheleme JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Ruther U, Schneider-Maunoury S, Attie-Bitach T, Saunier S TITLE The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. JOURNAL Nat Genet 39:875-81 (2007) DOI:10.1038/ng2039 PMID:18674751 (ARL13B) AUTHORS Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attie-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Valente EM, Woods CG, Gleeson JG TITLE Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. JOURNAL Am J Hum Genet 83:170-9 (2008) DOI:10.1016/j.ajhg.2008.06.023 PMID:18387594 (CC2D2A) AUTHORS Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M, Irfan M, Siddiqui ZK, Naeem F, Paterson AD, Lutfullah M, Vincent JB, Ayub M TITLE CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. JOURNAL Am J Hum Genet 82:1011-8 (2008) DOI:10.1016/j.ajhg.2008.01.021 PMID:19800048 (OFD1) AUTHORS Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP TITLE OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. JOURNAL Am J Hum Genet 85:465-81 (2009) DOI:10.1016/j.ajhg.2009.09.002 PMID:21258341 (TTC21B) 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) DOI:10.1038/ng.756 PMID:21633164 (KIF7) 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) DOI:10.1172/JCI43639 PMID:21725307 (TCTN1) 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) DOI:10.1038/ng.891 PMID:22152675 (TMEM237) 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) DOI:10.1016/j.ajhg.2011.11.005 PMID:22246503 (CEP41) 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) DOI:10.1038/ng.1078 PMID:22282472 (TMEM138) 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) DOI:10.1126/science.1213506 PMID:22425360 (CPLANE1) 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) DOI:10.1016/j.ajhg.2012.02.011 PMID:22883145 (TCTN3) 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) DOI:10.1016/j.ajhg.2012.06.017 PMID:22863007 (ZNF423) 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) DOI:10.1016/j.cell.2012.06.028 PMID:23012439 (TMEM231) 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) DOI:10.1136/jmedgenet-2012-101132 PMID:24360807 (CSPP1) 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) DOI:10.1016/j.ajhg.2013.11.015 PMID:24166846 (PDE6D) 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) DOI:10.1002/humu.22470 PMID:26096313 (JBTS23) AUTHORS Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenco C, Arslan M, Shendure J, Doherty D TITLE KIAA0586 is Mutated in Joubert Syndrome. JOURNAL Hum Mutat 36:831-5 (2015) DOI:10.1002/humu.22821 PMID:21565611 (TCTN2) AUTHORS Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK TITLE Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. JOURNAL Cell 145:513-28 (2011) DOI:10.1016/j.cell.2011.04.019 PMID:26477546 (CEP104) AUTHORS Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Decarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL TITLE Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. JOURNAL Am J Hum Genet 97:744-53 (2015) DOI:10.1016/j.ajhg.2015.09.009 PMID:26714646 (KATNIP) AUTHORS Sanders AA, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJ, Alhashem A, Tabarki B, Lu Q, Lambacher NJ, Kennedy JE, Bowie RV, Hetterschijt L, van Beersum S, van Reeuwijk J, Boldt K, Kremer H, Kesterson RA, Monies D, Abouelhoda M, Roepman R, Huynen MH, Ueffing M, Russell RB, Wolfrum U, Yoder BK, van Wijk E, Alkuraya FS, Blacque OE TITLE KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. JOURNAL Genome Biol 16:293 (2015) DOI:10.1186/s13059-015-0858-z PMID:24886560 (B9D1 MKS1) AUTHORS Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Mate A, Zimmermann A, Gouider-Khouja N, Valente EM TITLE Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. JOURNAL Orphanet J Rare Dis 9:72 (2014) DOI:10.1186/1750-1172-9-72 PMID:26595381 (TMEM107) AUTHORS Lambacher NJ, Bruel AL, van Dam TJ, Szymanska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Wu KM, van der Lee R, Burglen L, Doummar D, Riviere JB, Faivre L, Attie-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA, Thauvin-Robinet C, Blacque OE TITLE TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. JOURNAL Nat Cell Biol 18:122-31 (2016) DOI:10.1038/ncb3273 PMID:28625504 (ARMC9) AUTHORS Van De Weghe JC, Rusterholz TDS, Latour B, Grout ME, Aldinger KA, Shaheen R, Dempsey JC, Maddirevula S, Cheng YH, Phelps IG, Gesemann M, Goel H, Birk OS, Alanzi T, Rawashdeh R, Khan AO, Bamshad MJ, Nickerson DA, Neuhauss SCF, Dobyns WB, Alkuraya FS, Roepman R, Bachmann-Gagescu R, Doherty D TITLE Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. JOURNAL Am J Hum Genet 101:23-36 (2017) DOI:10.1016/j.ajhg.2017.05.010 PMID:27208211 (CEP120) AUTHORS Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM TITLE Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. JOURNAL J Med Genet 53:608-15 (2016) DOI:10.1136/jmedgenet-2016-103832 PMID:28965847 (SUFU) AUTHORS De Mori R, Romani M, D'Arrigo S, Zaki MS, Lorefice E, Tardivo S, Biagini T, Stanley V, Musaev D, Fluss J, Micalizzi A, Nuovo S, Illi B, Chiapparini L, Di Marcotullio L, Issa MY, Anello D, Casella A, Ginevrino M, Leggins AS, Roosing S, Alfonsi R, Rosati J, Schot R, Mancini GMS, Bertini E, Dobyns WB, Mazza T, Gleeson JG, Valente EM TITLE Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. JOURNAL Am J Hum Genet 101:552-563 (2017) DOI:10.1016/j.ajhg.2017.08.017 PMID:26167768 (PIBF1) AUTHORS Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA TITLE An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes. JOURNAL Nat Cell Biol 17:1074-1087 (2015) DOI:10.1038/ncb3201 PMID:26092869 (B9D2) AUTHORS 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, Ramadevi A R, Lingappa L, Lourenco C, Martorell L, Garcia-Cazorla A, Ozyurek H, Haliloglu G, Tuysuz B, Topcu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D TITLE Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. JOURNAL J Med Genet 52:514-22 (2015) DOI:10.1136/jmedgenet-2015-103087 PMID:30269812 (ARL3) AUTHORS Alkanderi S, Molinari E, Shaheen R, Elmaghloob Y, Stephen LA, Sammut V, Ramsbottom SA, Srivastava S, Cairns G, Edwards N, Rice SJ, Ewida N, Alhashem A, White K, Miles CG, Steel DH, Alkuraya FS, Ismail S, Sayer JA TITLE ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. JOURNAL Am J Hum Genet 103:612-620 (2018) DOI:10.1016/j.ajhg.2018.08.015 PMID:30905400 (FAM149B1) AUTHORS Shaheen R, Jiang N, Alzahrani F, Ewida N, Al-Sheddi T, Alobeid E, Musaev D, Stanley V, Hashem M, Ibrahim N, Abdulwahab F, Alshenqiti A, Sonmez FM, Saqati N, Alzaidan H, Al-Qattan MM, Al-Mohanna F, Gleeson JG, Alkuraya FS TITLE Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. JOURNAL Am J Hum Genet 104:731-737 (2019) DOI:10.1016/j.ajhg.2019.02.018 PMID:32453716 (TOGARAM1 ARMC9) AUTHORS Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, van Reeuwijk J, van Beersum SE, Miller CV, Dempsey JC, Morsy H, Bamshad MJ, Nickerson DA, Neuhauss SC, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, Doherty D TITLE Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. JOURNAL J Clin Invest 130:4423-4439 (2020) DOI:10.1172/JCI131656 PMID:28220259 (JBTS38) AUTHORS Stephen J, Vilboux T, Mian L, Kuptanon C, Sinclair CM, Yildirimli D, Maynard DM, Bryant J, Fischer R, Vemulapalli M, Mullikin JC, Huizing M, Gahl WA, Malicdan MCV, Gunay-Aygun M TITLE Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. JOURNAL Hum Genet 136:399-408 (2017) DOI:10.1007/s00439-017-1765-z PMID:33791682 (TMEM218) AUTHORS Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, van Leeuwen E, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries BBA, Maroofian R, Doherty D TITLE TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. JOURNAL HGG Adv 2:100016 (2021) DOI:10.1016/j.xhgg.2020.100016 PMID:33531668 (IFT74) AUTHORS Luo M, Lin Z, Zhu T, Jin M, Meng D, He R, Cao Z, Shen Y, Lu C, Cai R, Zhao Y, Wang X, Li H, Wu S, Zou X, Luo G, Cao L, Huang M, Jiao H, Gao H, Sui R, Zhao C, Ma X, Cao M TITLE Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome. JOURNAL Genet Med 23:1041-1049 (2021) DOI:10.1038/s41436-021-01106-z |