Molecular-genetic basis of Rubinstein–Taybi syndrome

O. R. Ismagilova; Исмагилова О. Р.; T. S. Beskorovaynaya; Бескоровайная Т. С.; T. A. Adyan; Адян Т. А.; A. V. Polyakov; Поляков А. В.

doi:10.17650/2222-8721-2023-13-2-31-41

Molecular-genetic basis of Rubinstein–Taybi syndrome

Authors: Ismagilova O.R.¹, Beskorovaynaya T.S.¹, Adyan T.A.¹^,2, Polyakov A.V.¹
Affiliations:
1. N. P. Bochkov Medical Genetic Research Center
2. N. I. Pirogov Russian National Research Medical University of the Ministry of Health of Russia
Issue: Vol 13, No 2 (2023)
Pages: 31-41
Section: LECTURES AND REVIEWS
Published: 15.06.2023
URL: https://nmb.abvpress.ru/jour/article/view/541
DOI: https://doi.org/10.17650/2222-8721-2023-13-2-31-41
ID: 541

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Abstract

Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with a set of phenotypic features, which make up a recognizable pattern of the disease. This review of the literature highlights the molecular‑genetic basis and the presumed pathogenesis of the Rubinstein–Taybi syndrome, considers questions of geno‑phenotypic correlations and differential diagnosis in the group of pathologies called chromatinopathies.