KEGG DISEASE: Mosaic variegated aneuploidy syndrome

KEGG

DISEASE: Mosaic variegated aneuploidy syndrome

Entry

H01288                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   LD7Y  Other specified chromosomal anomalies, excluding gene mutations
    H01288  Mosaic variegated aneuploidy syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H01288  Mosaic variegated aneuploidy syndrome

Pathway

Cell cycle

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]

Other DBs

ICD-11:

ICD-10:

MeSH:

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

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

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