Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.

Authors: Vega, H  Waisfisz, Q  Gordillo, M  Sakai, N  Yanagihara, I  Yamada, M  Van Gosliga, D  Kayserili, H  Xu, C  Ozono, K  Jabs, EW  Inui, K  Joenje, H 
Citation: Vega H, etal., Nat Genet. 2005 May;37(5):468-70. Epub 2005 Apr 10.
Pubmed: (View Article at PubMed) PMID:15821733
DOI: Full-text: DOI:10.1038/ng1548

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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CRRD Object Information
CRRD ID: 11535977
Created: 2016-09-27
Species: All species
Last Modified: 2016-09-27
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.