Generate QR code
Open Access
Subscription Access
Molecular-genetic analysis of Rubinstein-Taybi syndrome in Russia
https://doi.org/10.25557/2073-7998.2022.09.48-51
Abstract
Rubinstein-Taybi syndrome (RTS) - rare hereditary disorder characterized by intellectual disability and growth retardation in conjunction with specific craniofacial and skeletal features and a wide range of multiple congenital anomalies. To date, mutations in two genes: CREBBP and EP300 can be discovered in about 60% of clinically identified patients with RTS. We herein report the result of molecular analysis in a cohort of Russian RTS patients. Despite the fact that we cannot confirm the diagnosis of RTS in 40% of causes, there are possibility for a better understanding of causative molecular mechanisms and improving the diagnostic process.
About the Authors
O. R. Ismagilova
Research Centre for Medical Genetics
Russian Federation
Russian Federation
T. A. Adyan
Research Centre for Medical Genetics; Pirogov Russian National Research Medical University
Russian Federation
Russian Federation
T. S. Beskorovainaya
Research Centre for Medical Genetics
Russian Federation
Russian Federation
A. V. Polyakov
Research Centre for Medical Genetics
Russian Federation
Russian Federation
References
1. Rubinstein J.H. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. AJMG. 1990;37(S6):3-16.
2. Spena S., Gervasini C., Milani D. Ultra-rare syndromes: the example of Rubinstein-Taybi syndrome. J. Pediatr. Genet. 2015;4(03):177-86.
3. Park E., Kim Y., Ryu H., et al. Epigenetic mechanisms of Rubinstein-Taybi syndrome. Neuromolecular med. 2014; 16(1):16-24.
4. Roelfsema J.H., Peters D.J.Rubinstein-Taybi syndrome: clinical and molecular overview. ERM. 2007;9(23):1-6.
5. Исмагилова О.Р., Бескоровайная Т.С., Адян Т.А. Cиндром Рубинштейна-Тейби. Педиатрия им. Г.Н. Сперанского. 2021; 100 (6): 97-104.
6. Рыжкова О.П., Кардымон О.Л., Прохорчук Е.Б., и др. Руководство по интерпретации данных последовательности ДНК человека, полученных методами массового параллельного секвенирования (MPS) (редакция 2018, версия 2). Медицинская генетика. 2019;18(2):3-23.
7. Bartsch O., Labonté J., Albrecht B., et al. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am. J. Med. Genet. A. 2010;152(1):181-4.
8. Negri G., Magini P., Milani D., et al. Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein-Taybi syndrome: the interconnections of epigenetic machinery disorders. Hum. Genet. 2019;138(3):257-69.
9. Allis C.D., Jenuwein T. The molecular hallmarks of epigenetic control. Nat. Rev. Genet. 2016;17(8):487-500.
Review
For citations:
Ismagilova O.R., Adyan T.A., Beskorovainaya T.S., Polyakov A.V. Molecular-genetic analysis of Rubinstein-Taybi syndrome in Russia. Medical Genetics. 2022;21(9):48-51. (In Russ.) https://doi.org/10.25557/2073-7998.2022.09.48-51
Views:
788
Email this article 