Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients.

Introduction: Rubinstein-Taybi syndrome (RSTS) is one of the many forms of syndromic intellectual disability, occurring in the population with a frequency of 1: 100-125 thousand newborns. The specific phenotype of patients enables the so-called "portrait" diagnosis of classical cases of RSTS, followed by the analysis of the and EP300 genes, whose association with RSTS has been confirmed. Nevertheless, for approximately half of the patients in various cohorts, the diagnosis cannot be confirmed.