NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW
Noonan syndrome is clinically and genetically heterogenic disease caused by mutations in genes coding the proteins of universal cascade of cellular signalling Ras-MAPK. Recently, about 10 genes known, with mutations leading to the disease development. Among multiple manifestations of the syndrome mo...
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| Format: | Article |
| Language: | Russian |
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«FIRMA «SILICEA» LLC
2016-10-01
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| Series: | Российский кардиологический журнал |
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| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/958 |
| _version_ | 1797856969990602752 |
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| author | A. A. Bukaeva N. P. Kotlukova E. V. Zaklyazminskaya |
| author_facet | A. A. Bukaeva N. P. Kotlukova E. V. Zaklyazminskaya |
| author_sort | A. A. Bukaeva |
| collection | DOAJ |
| description | Noonan syndrome is clinically and genetically heterogenic disease caused by mutations in genes coding the proteins of universal cascade of cellular signalling Ras-MAPK. Recently, about 10 genes known, with mutations leading to the disease development. Among multiple manifestations of the syndrome most clinically and prognostically significant are disorders of cardiovascular system, including hypertrophic cardiomyopathy and pulmonary artery stenosis. In the article, a case is presented of sporadic Noonan syndrome in 5-year old child with left ventricle hypertrophy and obstruction of outgoing flow. Genetic investigation revealed mutation p. S257L of gene RAF1, occurred de novo. Appearance of mutation de novo does not lead to increased risk of the second child birth with same disease by the parents. |
| first_indexed | 2024-04-09T20:49:07Z |
| format | Article |
| id | doaj.art-a1bc6f9222834de1a3a1915f07793da9 |
| institution | Directory Open Access Journal |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| last_indexed | 2024-04-09T20:49:07Z |
| publishDate | 2016-10-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj.art-a1bc6f9222834de1a3a1915f07793da92023-03-29T21:23:26Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202016-10-01010939710.15829/1560-4071-2016-10-93-97811NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEWA. A. Bukaeva0N. P. Kotlukova1E. V. Zaklyazminskaya2V. B. Petrovskiy Russian National Research Centre of Surgery, MoscowZ. A. B ashlyaeva Pediatric City Clinical Hospital. Bashlyaeva, Moscow N. I. Pirogov Russian National Research Medical University (RNRMU), Moscow, RussiaV. B. Petrovskiy Russian National Research Centre of Surgery, Moscow Z. A. B ashlyaeva Pediatric City Clinical Hospital. Bashlyaeva, MoscowNoonan syndrome is clinically and genetically heterogenic disease caused by mutations in genes coding the proteins of universal cascade of cellular signalling Ras-MAPK. Recently, about 10 genes known, with mutations leading to the disease development. Among multiple manifestations of the syndrome most clinically and prognostically significant are disorders of cardiovascular system, including hypertrophic cardiomyopathy and pulmonary artery stenosis. In the article, a case is presented of sporadic Noonan syndrome in 5-year old child with left ventricle hypertrophy and obstruction of outgoing flow. Genetic investigation revealed mutation p. S257L of gene RAF1, occurred de novo. Appearance of mutation de novo does not lead to increased risk of the second child birth with same disease by the parents.https://russjcardiol.elpub.ru/jour/article/view/958noonan syndromehypertrophic cardiomyopathyras cascaderaf1dna-diagnosticsdynamic observation |
| spellingShingle | A. A. Bukaeva N. P. Kotlukova E. V. Zaklyazminskaya NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW Российский кардиологический журнал noonan syndrome hypertrophic cardiomyopathy ras cascade raf1 dna-diagnostics dynamic observation |
| title | NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW |
| title_full | NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW |
| title_fullStr | NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW |
| title_full_unstemmed | NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW |
| title_short | NOONAN SYNDROME AS RESULT OF MUTATION p. S257L OF GENE RAF1: CLINICAL CASE AND REVIEW |
| title_sort | noonan syndrome as result of mutation p s257l of gene raf1 clinical case and review |
| topic | noonan syndrome hypertrophic cardiomyopathy ras cascade raf1 dna-diagnostics dynamic observation |
| url | https://russjcardiol.elpub.ru/jour/article/view/958 |
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