Article
Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.
Journal of medical genetics - 1 Jan 2010
Vega H, Trainer A H, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli M L Giovannucci, Schnur R E, Manouvrier S, Blair E, Hurst J A, Forzano F, Meins M, Simola K O J, Raas-Rothschild A, Hennekam R C M, Jabs E Wang
Abstract excerpt
BACKGROUND: Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described to date, only one missense mutation has been reported and all others are predicted to be t...
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