Mosaic variegated aneuploidy syndrome

Definition:

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.

References:

[1]. Bas de Wolf, et al. Chromosomal instability by mutations in the novel minor spliceosome component CENATAC. EMBO J. 2021 Jul 15;40(14):e106536. [Content Brief]

[2]. Katie Snape, et al. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet. 2011 Jun;43(6):527-9. [Content Brief]

[3]. Sandra Hanks, et al. Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. Nat Genet. 2004 Nov;36(11):1159-61. [Content Brief]

[4]. Shawn Yost, et al. Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. Nat Genet. 2017 Jul;49(7):1148-1151. [Content Brief]

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