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ESCO2 and Roberts Syndrome 

ESCO2 and Roberts Syndrome
Chapter:
ESCO2 and Roberts Syndrome
Author(s):

Hugo Vega

, Miriam Gordillo

, and Ethylin Wang Jabs

DOI:
10.1093/med/9780199934522.003.0150
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date: 07 March 2021

Roberts syndrome (RBS) or SC phocomelia syndrome (OMIM 286300 and 269000) is a rare autosomal recessive condition characterized by pre- and postnatal growth retardation, symmetric mesomelic limb reductions, and craniofacial abnormalities. RBS patient cells show a characteristic cytogenetic defect, known as premature centromere separation (PCS) or heterochromatin repulsion (HR), consisting of lack of sister chromatid cohesion at heterochromatic regions of all centromeres and the long arm of the Y chromosome. RBS is caused by loss of function mutations of the acetyltransferase Establishment of cohesion 1 homolog 2 (ESCO2, OMIM 609353). ESCO2 plays an essential role in the establishment of sister chromatid cohesion during S phase and orthologs in different species show physical and genetic interactions with components of the replication fork. Evidence from animal models and the cellular phenotype in RBS indicate that the molecular pathogenesis of ESCO2 mutations is related to defects in cohesion that ultimately affect cell proliferation.

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