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ORIGINAL RESEARCH article

Front. Genet.
Sec. Human and Medical Genomics
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1516565

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

Provisionally accepted
Olga Ismagilova Olga Ismagilova 1*Tagui Adyan Tagui Adyan 1,2Tatiana Beskorovainaya Tatiana Beskorovainaya 1Alexander Polyakov Alexander Polyakov 1
  • 1 Research Centre for Medical Genetics, Moscow, Russia
  • 2 Pirogov Russian National Research Medical University, Moscow, Moscow Oblast, Russia

The final, formatted version of the article will be published soon.

    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 makes possible so-called “portrait” diagnosis of classical cases of RSTS and subsequent analysis of CREBBP and EP300 genes, whose association with RSTS has been confirmed. Nevertheless, for approximately half of the patients in various cohorts it is unable to confirm the diagnosis. This paper presents the results of a study of 158 Russian patients referred for molecular diagnostics of RSTS using multiplex ligase-dependent probe amplification (MLPA) and next generation sequencing (NGS). Pathogenic and likely pathogenic variants were identified in 67 patients (42.4%), of which 62 (39%) were in CREBBP, 4 cases (2%) – in the EP300. In one case was also identified known pathogenic variant in SRCAP, associated with the Floating-Harbor syndrome (FHS) which is phenotypically similar to RSTS, therefore the possibilities and prospects for differential diagnosis were considered.

    Keywords: Multiple congenital anomaly syndrome, Rubinstein-Taybi Syndrome, RSTS, CREBBP, EP300

    Received: 24 Oct 2024; Accepted: 03 Jan 2025.

    Copyright: © 2025 Ismagilova, Adyan, Beskorovainaya and Polyakov. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Olga Ismagilova, Research Centre for Medical Genetics, Moscow, Russia

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