| H00897 | |
| H番号 | H00897 |
| 名称 | 橋小脳低形成 |
| 概要 | Pontocerebellar hypoplasia (PCH) is a group of inherited progressive neurodegenerative disorders with prenatal onset. Up to now ten different subtypes have been reported. All subtypes share common characteristics, including hypoplasia/atrophy of cerebellum and pons, progressive microcephaly, and variable cerebral involvement. Mutations in three tRNA splicing endonuclease subunit genes were found to be responsible for PCH2, PCH4 and PCH5. Mutations in the nuclear encoded mitochondrial arginyl- tRNA synthetase gene underlie PCH6. PCH1 is caused by homozygous mutation in the VRK1 gene. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (PCH1A) VRK1 [HSA:7443] [KO:K08816] (PCH1B) EXOSC3 [HSA:51010] [KO:K03681] (PCH1C) EXOSC8 [HSA:11340] [KO:K12586] (PCH1D) EXOSC9 [HSA:5393] [KO:K03678] (PCH1E) SLC25A46 [HSA:91137] [KO:K03454] (PCH1F) EXOSC1 [HSA:51013] [KO:K07573] (PCH2A/4/5) TSEN54 [HSA:283989] [KO:K15326] (PCH2B) TSEN2 [HSA:80746] [KO:K15322] (PCH2C) TSEN34 [HSA:79042] [KO:K15323] (PCH2D) SEPSECS [HSA:51091] [KO:K03341] (PCH2E) VPS53 [HSA:55275] [KO:K20299] (PCH2F) TSEN15 [HSA:116461] [KO:K15324] (PCH3) PCLO [HSA:27445] [KO:K16882] (PCH6) RARS2 [HSA:57038] [KO:K01887] (PCH7) TOE1 [HSA:114034] [KO:K13202] (PCH8) CHMP1A [HSA:5119] [KO:K12197] (PCH9) AMPD2 [HSA:271] [KO:K01490] (PCH10) CLP1 [HSA:10978] [KO:K14399] (PCH11) TBC1D23 [HSA:55773] [KO:K22555] (PCH12) COASY [HSA:80347] [KO:K02318] (PCH13) VPS51 [HSA:738] [KO:K20296] (PCH14) PPIL1 [HSA:51645] [KO:K12733] (PCH15) CDC40 [HSA:51362] [KO:K12816] (PCH16) MINPP1 [HSA:9562] [KO:K03103] (PCH17) PRDM13 [HSA:59336] [KO:K24645] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD20.01 ICD-10: Q04.3 MeSH: C580383 OMIM: 607596 614678 616081 618065 619303 619304 277470 225753 612389 612390 611523 608027 613811 615851 617026 614969 614961 615809 615803 617695 618266 618606 619301 619302 619527 619909 |
| 文献 | PMID:21749694 著者 Namavar Y, Barth PG, Poll-The BT, Baas F タイトル Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. 雑誌 Orphanet J Rare Dis 6:50 (2011) DOI:10.1186/1750-1172-6-50 PMID:19646678 (PCH1A) 著者 Renbaum P, Kellerman E, Jaron R, Geiger D, Segel R, Lee M, King MC, Levy-Lahad E タイトル Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. 雑誌 Am J Hum Genet 85:281-9 (2009) DOI:10.1016/j.ajhg.2009.07.006 PMID:23564332 (PCH1B) 著者 Biancheri R, Cassandrini D, Pinto F, Trovato R, Di Rocco M, Mirabelli-Badenier M, Pedemonte M, Panicucci C, Trucks H, Sander T, Zara F, Rossi A, Striano P, Minetti C, Santorelli FM タイトル EXOSC3 mutations in isolated cerebellar hypoplasia and spinal anterior horn involvement. 雑誌 J Neurol 260:1866-70 (2013) DOI:10.1007/s00415-013-6896-0 PMID:24989451 (PCH1C) 著者 Boczonadi V, Muller JS, Pyle A, Munkley J, Dor T, Quartararo J, Ferrero I, Karcagi V, Giunta M, Polvikoski T, Birchall D, Princzinger A, Cinnamon Y, Lutzkendorf S, Piko H, Reza M, Florez L, Santibanez-Koref M, Griffin H, Schuelke M, Elpeleg O, Kalaydjieva L, Lochmuller H, Elliott DJ, Chinnery PF, Edvardson S, Horvath R タイトル EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. 雑誌 Nat Commun 5:4287 (2014) DOI:10.1038/ncomms5287 PMID:29727687 (PCH1D) 著者 Burns DT, Donkervoort S, Muller JS, Knierim E, Bharucha-Goebel D, Faqeih EA, Bell SK, AlFaifi AY, Monies D, Millan F, Retterer K, Dyack S, MacKay S, Morales-Gonzalez S, Giunta M, Munro B, Hudson G, Scavina M, Baker L, Massini TC, Lek M, Hu Y, Ezzo D, AlKuraya FS, Kang PB, Griffin H, Foley AR, Schuelke M, Horvath R, Bonnemann CG タイトル Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy. 雑誌 Am J Hum Genet 102:858-873 (2018) DOI:10.1016/j.ajhg.2018.03.011 PMID:26168012 (PCH1E) 著者 Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schule R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Nemeth AH, Carelli V, Huang T, Zuchner S, Dallman JE タイトル Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. 雑誌 Nat Genet 47:926-32 (2015) DOI:10.1038/ng.3354 PMID:33463720 (PCH1F) 著者 Somashekar PH, Kaur P, Stephen J, Guleria VS, Kadavigere R, Girisha KM, Bielas S, Upadhyai P, Shukla A タイトル Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. 雑誌 Clin Genet 99:594-600 (2021) DOI:10.1111/cge.13928 PMID:21368912 (PCH2A/4/5) 著者 Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F タイトル TSEN54 mutations cause pontocerebellar hypoplasia type 5. 雑誌 Eur J Hum Genet 19:724-6 (2011) DOI:10.1038/ejhg.2011.8 PMID:18711368 (PCH2B PCH2C) 著者 Budde BS, Namavar Y, Barth PG, Poll-The BT, Nurnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Hohne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krageloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nurnberg P, Baas F タイトル tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. 雑誌 Nat Genet 40:1113-8 (2008) DOI:10.1038/ng.204 PMID:20920667 (PCH2D) 著者 Agamy O, Ben Zeev B, Lev D, Marcus B, Fine D, Su D, Narkis G, Ofir R, Hoffmann C, Leshinsky-Silver E, Flusser H, Sivan S, Soll D, Lerman-Sagie T, Birk OS タイトル Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. 雑誌 Am J Hum Genet 87:538-44 (2010) DOI:10.1016/j.ajhg.2010.09.007 PMID:24577744 (PCH2E) 著者 Feinstein M, Flusser H, Lerman-Sagie T, Ben-Zeev B, Lev D, Agamy O, Cohen I, Kadir R, Sivan S, Leshinsky-Silver E, Markus B, Birk OS タイトル VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2). 雑誌 J Med Genet 51:303-8 (2014) DOI:10.1136/jmedgenet-2013-101823 PMID:27392077 (PCH2F) 著者 Breuss MW, Sultan T, James KN, Rosti RO, Scott E, Musaev D, Furia B, Reis A, Sticht H, Al-Owain M, Alkuraya FS, Reuter MS, Abou Jamra R, Trotta CR, Gleeson JG タイトル Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. 雑誌 Am J Hum Genet 99:228-35 (2016) DOI:10.1016/j.ajhg.2016.05.023 PMID:25832664 (PCH3) 著者 Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH タイトル Loss of PCLO function underlies pontocerebellar hypoplasia type III. 雑誌 Neurology 84:1745-50 (2015) DOI:10.1212/WNL.0000000000001523 PMID:17847012 (PCH6) 著者 Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, Saada A, Elpeleg O タイトル Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. 雑誌 Am J Hum Genet 81:857-62 (2007) DOI:10.1086/521227 PMID:28092684 (PCH7) 著者 Lardelli RM, Schaffer AE, Eggens VR, Zaki MS, Grainger S, Sathe S, Van Nostrand EL, Schlachetzki Z, Rosti B, Akizu N, Scott E, Silhavy JL, Heckman LD, Rosti RO, Dikoglu E, Gregor A, Guemez-Gamboa A, Musaev D, Mande R, Widjaja A, Shaw TL, Markmiller S, Marin-Valencia I, Davies JH, de Meirleir L, Kayserili H, Altunoglu U, Freckmann ML, Warwick L, Chitayat D, Blaser S, Caglayan AO, Bilguvar K, Per H, Fagerberg C, Christesen HT, Kibaek M, Aldinger KA, Manchester D, Matsumoto N, Muramatsu K, Saitsu H, Shiina M, Ogata K, Foulds N, Dobyns WB, Chi NC, Traver D, Spaccini L, Bova SM, Gabriel SB, Gunel M, Valente EM, Nassogne MC, Bennett EJ, Yeo GW, Baas F, Lykke-Andersen J, Gleeson JG タイトル Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. 雑誌 Nat Genet 49:457-464 (2017) DOI:10.1038/ng.3762 PMID:23023333 (PCH8) 著者 Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA タイトル CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development. 雑誌 Nat Genet 44:1260-4 (2012) DOI:10.1038/ng.2425 PMID:23911318 (PCH9) 著者 Akizu N, Cantagrel V, Schroth J, Cai N, Vaux K, McCloskey D, Naviaux RK, Van Vleet J, Fenstermaker AG, Silhavy JL, Scheliga JS, Toyama K, Morisaki H, Sonmez FM, Celep F, Oraby A, Zaki MS, Al-Baradie R, Faqeih EA, Saleh MA, Spencer E, Rosti RO, Scott E, Nickerson E, Gabriel S, Morisaki T, Holmes EW, Gleeson JG タイトル AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder. 雑誌 Cell 154:505-17 (2013) DOI:10.1016/j.cell.2013.07.005 PMID:24766809 (PCH10) 著者 Karaca E, Weitzer S, Pehlivan D, Shiraishi H, Gogakos T, Hanada T, Jhangiani SN, Wiszniewski W, Withers M, Campbell IM, Erdin S, Isikay S, Franco LM, Gonzaga-Jauregui C, Gambin T, Gelowani V, Hunter JV, Yesil G, Koparir E, Yilmaz S, Brown M, Briskin D, Hafner M, Morozov P, Farazi TA, Bernreuther C, Glatzel M, Trattnig S, Friske J, Kronnerwetter C, Bainbridge MN, Gezdirici A, Seven M, Muzny DM, Boerwinkle E, Ozen M, Clausen T, Tuschl T, Yuksel A, Hess A, Gibbs RA, Martinez J, Penninger JM, Lupski JR タイトル Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. 雑誌 Cell 157:636-50 (2014) DOI:10.1016/j.cell.2014.02.058 PMID:28823707 (PCH11) 著者 Ivanova EL, Mau-Them FT, Riazuddin S, Kahrizi K, Laugel V, Schaefer E, de Saint Martin A, Runge K, Iqbal Z, Spitz MA, Laura M, Drouot N, Gerard B, Deleuze JF, de Brouwer APM, Razzaq A, Dollfus H, Assir MZ, Nitchke P, Hinckelmann MV, Ropers H, Riazuddin S, Najmabadi H, van Bokhoven H, Chelly J タイトル Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development. 雑誌 Am J Hum Genet 101:428-440 (2017) DOI:10.1016/j.ajhg.2017.07.010 PMID:30089828 (PCH12) 著者 van Dijk T, Ferdinandusse S, Ruiter JPN, Alders M, Mathijssen IB, Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F タイトル Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. 雑誌 Eur J Hum Genet 26:1752-1758 (2018) DOI:10.1038/s41431-018-0233-0 PMID:31207318 (PCH13) 著者 Uwineza A, Caberg JH, Hitayezu J, Wenric S, Mutesa L, Vial Y, Drunat S, Passemard S, Verloes A, El Ghouzzi V, Bours V タイトル VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report. 雑誌 Eur J Med Genet 62:103704 (2019) DOI:10.1016/j.ejmg.2019.103704 PMID:33220177 (PCH14 PCH15) 著者 Chai G, Webb A, Li C, Antaki D, Lee S, Breuss MW, Lang N, Stanley V, Anzenberg P, Yang X, Marshall T, Gaffney P, Wierenga KJ, Chung BH, Tsang MH, Pais LS, Lovgren AK, VanNoy GE, Rehm HL, Mirzaa G, Leon E, Diaz J, Neumann A, Kalverda AP, Manfield IW, Parry DA, Logan CV, Johnson CA, Bonthron DT, Valleley EMA, Issa MY, Abdel-Ghafar SF, Abdel-Hamid MS, Jennings P, Zaki MS, Sheridan E, Gleeson JG タイトル Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. 雑誌 Neuron 109:241-256.e9 (2021) DOI:10.1016/j.neuron.2020.10.035 PMID:33168985 (PCH16) 著者 Appelhof B, Wagner M, Hoefele J, Heinze A, Roser T, Koch-Hogrebe M, Roosendaal SD, Dehghani M, Mehrjardi MYV, Torti E, Houlden H, Maroofian R, Rajabi F, Sticht H, Baas F, Wieczorek D, Jamra RA タイトル Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1. 雑誌 Eur J Hum Genet 29:411-421 (2021) DOI:10.1038/s41431-020-00749-x PMID:35390279 (PCH17) 著者 Coolen M, Altin N, Rajamani K, Pereira E, Siquier-Pernet K, Puig Lombardi E, Moreno N, Barcia G, Yvert M, Laquerriere A, Pouliet A, Nitschke P, Boddaert N, Rausell A, Razavi F, Afenjar A, Billette de Villemeur T, Al-Maawali A, Al-Thihli K, Baptista J, Beleza-Meireles A, Garel C, Legendre M, Gelot A, Burglen L, Moutton S, Cantagrel V タイトル Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation. 雑誌 Am J Hum Genet 109:909-927 (2022) DOI:10.1016/j.ajhg.2022.03.010 |