| H00530 | |
| H番号 | H00530 |
| 名称 | ジュベール症候群関連疾患 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06501(H00530) HH signaling |
| 病因遺伝子 | (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] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | 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 |
| 文献 | PMID:21108387 著者 Brugmann SA, Cordero DR, Helms JA タイトル Craniofacial ciliopathies: A new classification for craniofacial disorders. 雑誌 Am J Med Genet A 152A:2995-3006 (2010) DOI:10.1002/ajmg.a.33727 PMID:20615230 著者 Brancati F, Dallapiccola B, Valente EM タイトル Joubert Syndrome and related disorders. 雑誌 Orphanet J Rare Dis 5:20 (2010) DOI:10.1186/1750-1172-5-20 PMID:19668216 (INPP5E) 著者 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 タイトル Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 雑誌 Nat Genet 41:1032-6 (2009) DOI:10.1038/ng.423 PMID:20036350 (TMEM216) 著者 Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, Gomori JM, Ekstein J, Elpeleg O タイトル Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. 雑誌 Am J Hum Genet 86:93-7 (2010) DOI:10.1016/j.ajhg.2009.12.007 PMID:15322546 (AHI1) 著者 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 タイトル Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. 雑誌 Nat Genet 36:1008-13 (2004) DOI:10.1038/ng1419 PMID:15138899 (NPHP1) 著者 Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA タイトル The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 雑誌 Am J Hum Genet 75:82-91 (2004) DOI:10.1086/421846 PMID:16682973 (CEP290) 著者 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 タイトル The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. 雑誌 Nat Genet 38:674-81 (2006) DOI:10.1038/ng1786 PMID:17160906 (TMEM67) 著者 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 タイトル The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. 雑誌 Am J Hum Genet 80:186-94 (2007) DOI:10.1086/510499 PMID:17558409 (RPGRIP1L) 著者 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 タイトル The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. 雑誌 Nat Genet 39:875-81 (2007) DOI:10.1038/ng2039 PMID:18674751 (ARL13B) 著者 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 タイトル Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. 雑誌 Am J Hum Genet 83:170-9 (2008) DOI:10.1016/j.ajhg.2008.06.023 PMID:18387594 (CC2D2A) 著者 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 タイトル CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. 雑誌 Am J Hum Genet 82:1011-8 (2008) DOI:10.1016/j.ajhg.2008.01.021 PMID:19800048 (OFD1) 著者 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 タイトル OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. 雑誌 Am J Hum Genet 85:465-81 (2009) DOI:10.1016/j.ajhg.2009.09.002 PMID:21258341 (TTC21B) 著者 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 タイトル TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 雑誌 Nat Genet 43:189-96 (2011) DOI:10.1038/ng.756 PMID:21633164 (KIF7) 著者 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 タイトル Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. 雑誌 J Clin Invest 121:2662-7 (2011) DOI:10.1172/JCI43639 PMID:21725307 (TCTN1) 著者 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 タイトル A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 雑誌 Nat Genet 43:776-84 (2011) DOI:10.1038/ng.891 PMID:22152675 (TMEM237) 著者 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 タイトル TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. 雑誌 Am J Hum Genet 89:713-30 (2011) DOI:10.1016/j.ajhg.2011.11.005 PMID:22246503 (CEP41) 著者 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 タイトル CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 雑誌 Nat Genet 44:193-9 (2012) DOI:10.1038/ng.1078 PMID:22282472 (TMEM138) 著者 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 タイトル Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 雑誌 Science 335:966-9 (2012) DOI:10.1126/science.1213506 PMID:22425360 (CPLANE1) 著者 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 タイトル Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population. 雑誌 Am J Hum Genet 90:693-700 (2012) DOI:10.1016/j.ajhg.2012.02.011 PMID:22883145 (TCTN3) 著者 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 タイトル TCTN3 mutations cause Mohr-Majewski syndrome. 雑誌 Am J Hum Genet 91:372-8 (2012) DOI:10.1016/j.ajhg.2012.06.017 PMID:22863007 (ZNF423) 著者 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 タイトル Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 雑誌 Cell 150:533-48 (2012) DOI:10.1016/j.cell.2012.06.028 PMID:23012439 (TMEM231) 著者 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 タイトル Mutations in TMEM231 cause Joubert syndrome in French Canadians. 雑誌 J Med Genet 49:636-41 (2012) DOI:10.1136/jmedgenet-2012-101132 PMID:24360807 (CSPP1) 著者 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 タイトル Mutations in CSPP1 lead to classical Joubert syndrome. 雑誌 Am J Hum Genet 94:80-6 (2014) DOI:10.1016/j.ajhg.2013.11.015 PMID:24166846 (PDE6D) 著者 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 タイトル A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. 雑誌 Hum Mutat 35:137-46 (2014) DOI:10.1002/humu.22470 PMID:26096313 (JBTS23) 著者 Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenco C, Arslan M, Shendure J, Doherty D タイトル KIAA0586 is Mutated in Joubert Syndrome. 雑誌 Hum Mutat 36:831-5 (2015) DOI:10.1002/humu.22821 PMID:21565611 (TCTN2) 著者 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 タイトル Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. 雑誌 Cell 145:513-28 (2011) DOI:10.1016/j.cell.2011.04.019 PMID:26477546 (CEP104) 著者 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 タイトル Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 雑誌 Am J Hum Genet 97:744-53 (2015) DOI:10.1016/j.ajhg.2015.09.009 PMID:26714646 (KATNIP) 著者 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 タイトル KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. 雑誌 Genome Biol 16:293 (2015) DOI:10.1186/s13059-015-0858-z PMID:24886560 (B9D1 MKS1) 著者 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 タイトル Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 雑誌 Orphanet J Rare Dis 9:72 (2014) DOI:10.1186/1750-1172-9-72 PMID:26595381 (TMEM107) 著者 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 タイトル TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. 雑誌 Nat Cell Biol 18:122-31 (2016) DOI:10.1038/ncb3273 PMID:28625504 (ARMC9) 著者 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 タイトル Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. 雑誌 Am J Hum Genet 101:23-36 (2017) DOI:10.1016/j.ajhg.2017.05.010 PMID:27208211 (CEP120) 著者 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 タイトル Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes. 雑誌 J Med Genet 53:608-15 (2016) DOI:10.1136/jmedgenet-2016-103832 PMID:28965847 (SUFU) 著者 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 タイトル Hypomorphic Recessive Variants in SUFU Impair the Sonic Hedgehog Pathway and Cause Joubert Syndrome with Cranio-facial and Skeletal Defects. 雑誌 Am J Hum Genet 101:552-563 (2017) DOI:10.1016/j.ajhg.2017.08.017 PMID:26167768 (PIBF1) 著者 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, 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DOI:10.1136/jmedgenet-2015-103087 PMID:30269812 (ARL3) 著者 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 タイトル ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition. 雑誌 Am J Hum Genet 103:612-620 (2018) DOI:10.1016/j.ajhg.2018.08.015 PMID:30905400 (FAM149B1) 著者 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 タイトル Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. 雑誌 Am J Hum Genet 104:731-737 (2019) DOI:10.1016/j.ajhg.2019.02.018 PMID:32453716 (TOGARAM1 ARMC9) 著者 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 タイトル Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. 雑誌 J Clin Invest 130:4423-4439 (2020) DOI:10.1172/JCI131656 PMID:28220259 (JBTS38) 著者 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 タイトル Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. 雑誌 Hum Genet 136:399-408 (2017) DOI:10.1007/s00439-017-1765-z PMID:33791682 (TMEM218) 著者 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 タイトル TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes. 雑誌 HGG Adv 2:100016 (2021) DOI:10.1016/j.xhgg.2020.100016 PMID:33531668 (IFT74) 著者 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 タイトル Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome. 雑誌 Genet Med 23:1041-1049 (2021) DOI:10.1038/s41436-021-01106-z |