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Mosaic variegated aneuploidy (MVA) syndrome is a very rare condition characterized by problems with cell division (specifically during mitosis) that results in a high number of cells with missing (monosomy) or extra (trisomy) genetic material in multiple chromosomes and tissues (mosaic aneuploidies). Only about 50 cases have been described in the medical literature. Features include severe microcephaly, growth deficiency and short stature, mild physical abnormalities, eye abnormalities, problems with the brain and central nervous system, seizures, developmental delay, and intellectual disability. The risk for cancer is increased, with rhabdomyosarcoma, Wilm's tumor, and leukemia reported in several cases.
MVA syndrome is an autosomal recessive condition. It can be caused by changes (mutations) in the BUB1B gene or the CEP57 gene. The BUB1B gene encodes BubR1, a key protein in mitotic spindle checkpoint function. The CEP57 gene is involved in microtubule stabilization. Both play a role in the process of cell division. Treatment depends on the symptoms present in each person, but may include growth hormone therapy. Individuals with a BUB1B mutations should also be offered cancer screening.
Source: GARD Last updated on 05-01-20
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