Molecular genetic analysis of Rubinstein–Taybi syndrome in Russia

Rubinstein-Taybi Syndrome (RTS) is a rare pathology, characterized by intellectual disability, developmental delays and a specific set of phenotypic features, with various anomalies in internal organs. The diagnostic algorithm includes detecting mutations in two main genes: CREBBP and EP300. This study presents the results of molecular-genetic analysis of 158 Russian patients with RTS: pathogenic and likely pathogenic variants were identified in 70 patients (42.4%), of which 62 (39%) were associated with the CREBBP gene and 4 cases (2%) with the EP300 gene. One patient was found to have a pathogenic variant in the SRCAP gene, which is associated with the development of a phenotypically similar condition known as Floating-Harbor Syndrome (FHS). There are opportunities for improvement in diagnostic principles.

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