Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion by Vega Hugo, Waisfisz Quinten, Gordillo Miriam, Sakai Norio, Yanagihara Itaru, Yamada Minoru, van Gosliga Djoke, Kayserili Hülya, Xu Chengzhe, Ozono Keiichi, Jabs Ethylin Wang, Inui Koji, Joenje Hans in Nature genetics (2005).

[PMID: 15821733] PubMed


Roberts syndrome is an autosomal recessive disorder characterized by craniofacial anomalies, tetraphocomelia and loss of cohesion at heterochromatic regions of centromeres and the Y chromosome. We identified mutations in a new human gene, ESCO2, associated with Roberts syndrome in 15 kindreds. The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity.

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