Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients
IntroductionRubinstein–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...
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2025.1516565/full |
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| author | Olga R. Ismagilova Tagui A. Adyan Tagui A. Adyan Tatiana S. Beskorovainaya Alexander V. Polyakov |
| author_facet | Olga R. Ismagilova Tagui A. Adyan Tagui A. Adyan Tatiana S. Beskorovainaya Alexander V. Polyakov |
| author_sort | Olga R. Ismagilova |
| collection | DOAJ |
| description | IntroductionRubinstein–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 CREBBP 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.MethodsIn this paper we present the results of a study of 158 Russian patients referred for molecular diagnosis of RSTS using multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS).ResultsPathogenic and likely pathogenic variants were identified in 67 patients (42.4%), of which 62 (39%) were in CREBBP and 4 cases (2%)—in EP300. In one case, a known pathogenic variant in SRCAP, associated with Floating–Harbor syndrome (FHS), which is phenotypically similar to RSTS, was also identified; therefore, the possibilities and prospects for differential diagnosis were considered. |
| format | Article |
| id | doaj-art-df2057a18f114ef18fee377d033f2c86 |
| institution | Kabale University |
| issn | 1664-8021 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj-art-df2057a18f114ef18fee377d033f2c862025-01-31T06:40:18ZengFrontiers Media S.A.Frontiers in Genetics1664-80212025-01-011610.3389/fgene.2025.15165651516565Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patientsOlga R. Ismagilova0Tagui A. Adyan1Tagui A. Adyan2Tatiana S. Beskorovainaya3Alexander V. Polyakov4DNA-Diagnostics Laboratory, Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (RCMG), Moscow, RussiaDNA-Diagnostics Laboratory, Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (RCMG), Moscow, RussiaDepartment of General and Medical Genetics, Faculty of Biomedical Sciences, Pirogov Russian National Research Medical University, Moscow, RussiaDNA-Diagnostics Laboratory, Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (RCMG), Moscow, RussiaDNA-Diagnostics Laboratory, Federal State Budgetary Scientific Institution, Research Centre for Medical Genetics (RCMG), Moscow, RussiaIntroductionRubinstein–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 CREBBP 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.MethodsIn this paper we present the results of a study of 158 Russian patients referred for molecular diagnosis of RSTS using multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing (NGS).ResultsPathogenic and likely pathogenic variants were identified in 67 patients (42.4%), of which 62 (39%) were in CREBBP and 4 cases (2%)—in EP300. In one case, a known pathogenic variant in SRCAP, associated with Floating–Harbor syndrome (FHS), which is phenotypically similar to RSTS, was also identified; therefore, the possibilities and prospects for differential diagnosis were considered.https://www.frontiersin.org/articles/10.3389/fgene.2025.1516565/fullmultiple congenital anomaly syndromeRubinstein–Taybi syndromeCREBBPEP300next-generation sequencingmultiplex ligation-dependent probe amplification |
| spellingShingle | Olga R. Ismagilova Tagui A. Adyan Tagui A. Adyan Tatiana S. Beskorovainaya Alexander V. Polyakov Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients Frontiers in Genetics multiple congenital anomaly syndrome Rubinstein–Taybi syndrome CREBBP EP300 next-generation sequencing multiplex ligation-dependent probe amplification |
| title | Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients |
| title_full | Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients |
| title_fullStr | Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients |
| title_full_unstemmed | Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients |
| title_short | Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients |
| title_sort | molecular genetic analysis of rubinstein taybi syndrome in russian patients |
| topic | multiple congenital anomaly syndrome Rubinstein–Taybi syndrome CREBBP EP300 next-generation sequencing multiplex ligation-dependent probe amplification |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2025.1516565/full |
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