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
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.
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.
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.
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.