Roberts syndrome is caused by mutations in the ESCO2 gene. The ESCO2 gene is a human homolog of yeast ECO1 and is essential for the establishment of sister chromatid cohesion. In simpler terms, the ESCO2 gene helps ensure that duplicated chromosomes (sister chromatids) are properly connected during cell division. When this gene is mutated, this process is disrupted, leading to the features of Roberts syndrome.
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