| H01288 | |
| H number | H01288 |
| Name | Mosaic variegated aneuploidy syndrome |
| Description | 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. |
| Category | Chromosomal abnormality |
| Network | nt06515 Regulation of kinetochore-microtubule interactions |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD7Y ICD-10: Q99.8 MeSH: C536987 OMIM: 257300 614114 617598 620153 620189 |
| Reference | PMID:15475955 (MVA1) AUTHORS 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 TITLE Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. JOURNAL Nat Genet 36:1159-61 (2004) DOI:10.1038/ng1449 PMID:21552266 (MVA2) AUTHORS 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 TITLE Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. JOURNAL Nat Genet 43:527-9 (2011) DOI:10.1038/ng.822 PMID:28553959 (MVA3) AUTHORS 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 TITLE Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. JOURNAL Nat Genet 49:1148-1151 (2017) DOI:10.1038/ng.3883 PMID:34009673 (MVA4) AUTHORS 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 TITLE Chromosomal instability by mutations in the novel minor spliceosome component CENATAC. JOURNAL EMBO J 40:e106536 (2021) DOI:10.15252/embj.2020106536 PMID:36322655 (MVA7) AUTHORS 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 TITLE Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility. JOURNAL Sci Adv 8:eabq5914 (2022) DOI:10.1126/sciadv.abq5914 |