| H01288 | |
| H番号 | H01288 |
| 名称 | 多彩異数性モザイク症候群; MVA症候群 |
| 概要 | Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies, diverse phenotypic abnormalities and predisposition to cancer. MVA is due to defective cell division, leading to aberrant disjunction of chromosomes during mitosis. It has been reported that mutations of the BUB1B, CEP57, and TRIP13 genes cause MVA. |
| カテゴリ | 染色体異常 |
| ネットワーク | nt06515 Regulation of kinetochore-microtubule interactions |
| 病因遺伝子 | (MVA1) BUB1B [HSA:701] [KO:K06637] (MVA2) CEP57 [HSA:9702] [KO:K16762] (MVA3) TRIP13 [HSA:9319] [KO:K22399] (MVA4) CENATAC [HSA:338657] [KO:K26160] (MVA7) MAD1L1 [HSA:8379] [KO:K06679] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD7Y ICD-10: Q99.8 MeSH: C536987 OMIM: 257300 614114 617598 620153 620189 |
| 文献 | PMID:15475955 (MVA1) 著者 Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Mehes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N タイトル Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. 雑誌 Nat Genet 36:1159-61 (2004) DOI:10.1038/ng1449 PMID:21552266 (MVA2) 著者 Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N タイトル Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. 雑誌 Nat Genet 43:527-9 (2011) DOI:10.1038/ng.822 PMID:28553959 (MVA3) 著者 Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N タイトル Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. 雑誌 Nat Genet 49:1148-1151 (2017) DOI:10.1038/ng.3883 PMID:34009673 (MVA4) 著者 de Wolf B, Oghabian A, Akinyi MV, Hanks S, Tromer EC, van Hooff JJE, van Voorthuijsen L, van Rooijen LE, Verbeeren J, Uijttewaal ECH, Baltissen MPA, Yost S, Piloquet P, Vermeulen M, Snel B, Isidor B, Rahman N, Frilander MJ, Kops GJPL タイトル Chromosomal instability by mutations in the novel minor spliceosome component CENATAC. 雑誌 EMBO J 40:e106536 (2021) DOI:10.15252/embj.2020106536 PMID:36322655 (MVA7) 著者 Villarroya-Beltri C, Osorio A, Torres-Ruiz R, Gomez-Sanchez D, Trakala M, Sanchez-Belmonte A, Mercadillo F, Hurtado B, Pitarch B, Hernandez-Nunez A, Gomez-Caturla A, Rueda D, Perea J, Rodriguez-Perales S, Malumbres M, Urioste M タイトル Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility. 雑誌 Sci Adv 8:eabq5914 (2022) DOI:10.1126/sciadv.abq5914 |