Clinical polymorphism of RASopathies in terms of the children's cardiology department
- Authors: Melnik O.V1, Gudkova A.Y1,2, Vershinina T.L1, Nikitina I.L1, Kostareva A.A1, Pervunina T.M1
-
Affiliations:
- V.A.Almazov National Medical Research Centre
- I.P.Pavlov First Saint Petersburg State Medical University of the Ministry of Health of the Russian Federation
- Issue: Vol 19, No 12 (2017)
- Pages: 100-104
- Section: Articles
- URL: https://journals.rcsi.science/2075-1753/article/view/94953
- DOI: https://doi.org/10.26442/2075-1753_19.12.100-104
- ID: 94953
Cite item
Full Text
Abstract
Full Text
##article.viewOnOriginalSite##About the authors
O. V Melnik
V.A.Almazov National Medical Research Centre
Email: orangelove@yandex.ru
канд. мед. наук, науч. сотр. научно-исследовательской лаб. хирургии врожденной и наследственной патологии 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2
A. Y Gudkova
V.A.Almazov National Medical Research Centre; I.P.Pavlov First Saint Petersburg State Medical University of the Ministry of Health of the Russian Federation
Email: alexagood-1954@mail.ru
д-р мед. наук, проф. каф. факультетской терапии, зав. лаб. кардиомиопатий Института сердечно-сосудистых заболеваний, вед. науч. сотр. Института молекулярной биологии и генетики 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2
T. L Vershinina
V.A.Almazov National Medical Research Centre
Email: Vershinina_TL@almazovcentre.ru
канд. мед. наук, зав. отд-нием детской кардиологии и медицинской реабилитации 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2
I. L Nikitina
V.A.Almazov National Medical Research Centre
Email: Nikitina_IL@almazovcentre.ru
д-р мед. наук, зав. научно-исследовательской лаб. детской эндокринологии 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2
A. A Kostareva
V.A.Almazov National Medical Research Centre
Email: akostareva@hotmail.com
канд. мед. наук, дир. Института молекулярной биологии и генетики 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2
T. M Pervunina
V.A.Almazov National Medical Research Centre
Email: ptm.pervunina@yandex.ru
канд. мед. наук, дир. Института перинатологии и педиатрии 197341, Russian Federation, Saint Petersburg, ul. Akkuratova, d. 2
References
- Rauen K. The RASopathies. Ann Rev Genomics Hum Genetics 2013; 14: 355-69.
- Aoki Y, Niihori T, Inoue S. et al. Recent advances in RASopathies. J Hum Genetics 2016; 61: 33-9.
- Yamamoto G.L, Aguena M, Gos M. et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genetics 2015; 52 (6): 413-21.
- Aoki Y, Niihori T, Banjo T. et al. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genetics 2013; 93 (1): 173-80.
- Romano A.A, Allanson J.E, Dahlgren J. et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010; 126 (4): 746-59.
- William E.T, Rauen K.A. Expansion of the RASopathies. Cur Genetic Med Reports 2016; 4 (3): 57-64.
- Martinez-Quintana E, Rodriguez-Gonzalez F. LEOPARD syndrome: clinical features and gene mutations. Molecular Syndromology 2012; 3: 145-57.
- Limongelli G, Pacileo G, Marino B. et al. Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome. Am J Cardiol 2007; 100: 736-41.
- Allanson J.E, Anneren G, Aoki Y. et al. Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genetics. Part C: Seminars in Medical Genetics 2011; 157: 129-35.
- Lin A.E, Alexander M.E, Colan S.D. et al. Clinical, pathological, and molecular analysis of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genetics. Part A 2011; 155: 486-507.
- Sarkozy A, Didilio M.C, Dallapiccola B. Leopard syndrome. Orphanet J Rare Dis 2008;3 (1): 13.
- Jorge A.A, Malaquias A.C, Arnhold I.G. et al. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Hormone Res 2009; 71: 185-93.
- Wilkinson J.D, Lowe A.M, Salbert B.A. et al. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J 2012; 164 (3): 442-8.
- Sun X-L, Zhao J, Chen X. et al. A Unique Case of a 12-Year-Old Boy with Noonan Syndrome Combined With Noncompaction of the Ventricular Myocardium. Int Heart J Assoc 2016; 57 (2): 258-61