A new nucleotide variant in the <I>ELAC2</I> gene in a young child with a ventricular hypertrophy
The few foreign papers of the last decade have shown the relationship of various pathogenic variants of the ELAC2 gene to heterogeneous phenotypic manifestations, for which the unfavorable prognosis is common, caused by severe cardiomyopathy in the first year of life. The article presents the first...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Ltd. “The National Academy of Pediatric Science and Innovation”
2022-09-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
| Subjects: | |
| Online Access: | https://www.ped-perinatology.ru/jour/article/view/1684 |
| _version_ | 1797875121340284928 |
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| author | L. A. Gandaeva E. N. Basargina O. B. Kondakova V. G. Kaverina A. A. Pushkov O. P. Zharova P. P. Fisenko K. V. Savostyanov |
| author_facet | L. A. Gandaeva E. N. Basargina O. B. Kondakova V. G. Kaverina A. A. Pushkov O. P. Zharova P. P. Fisenko K. V. Savostyanov |
| author_sort | L. A. Gandaeva |
| collection | DOAJ |
| description | The few foreign papers of the last decade have shown the relationship of various pathogenic variants of the ELAC2 gene to heterogeneous phenotypic manifestations, for which the unfavorable prognosis is common, caused by severe cardiomyopathy in the first year of life. The article presents the first clinical observation of a rare variant of the hypertrophic phenotype cardiomyopathy with a fatal outcome in the first year of life, and variants c.887T>C, p.L296P and c.1979A>T, p.K660I of the ELAC2 gene in Russia.The purpose of the work is to present clinical observation of a child with an early manifestation of a hypertrophic phenotype of cardiomyopathy caused by pathogenic variants of the ELAC2 gene. |
| first_indexed | 2024-04-10T01:41:36Z |
| format | Article |
| id | doaj.art-a73ba6d30368431b884b879da4618a1f |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:41:36Z |
| publishDate | 2022-09-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-a73ba6d30368431b884b879da4618a1f2023-03-13T09:12:53ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282022-09-0167412012610.21508/1027-4065-2022-67-4-120-1261228A new nucleotide variant in the <I>ELAC2</I> gene in a young child with a ventricular hypertrophyL. A. Gandaeva0E. N. Basargina1O. B. Kondakova2V. G. Kaverina3A. A. Pushkov4O. P. Zharova5P. P. Fisenko6K. V. Savostyanov7ФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава России; Клинический институт детского здоровья им. Н.Ф. Филатова ФГАОУ ВО «Первый Московский государственный медицинский университет им. И.М. Сеченова» Минздрава России (Сеченовский университет)ФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииФГАУ «Национальный медицинский исследовательский центр здоровья детей» Минздрава РоссииThe few foreign papers of the last decade have shown the relationship of various pathogenic variants of the ELAC2 gene to heterogeneous phenotypic manifestations, for which the unfavorable prognosis is common, caused by severe cardiomyopathy in the first year of life. The article presents the first clinical observation of a rare variant of the hypertrophic phenotype cardiomyopathy with a fatal outcome in the first year of life, and variants c.887T>C, p.L296P and c.1979A>T, p.K660I of the ELAC2 gene in Russia.The purpose of the work is to present clinical observation of a child with an early manifestation of a hypertrophic phenotype of cardiomyopathy caused by pathogenic variants of the ELAC2 gene.https://www.ped-perinatology.ru/jour/article/view/1684детиноворожденныегипертрофическая кардиомиопатиянаследственные болезнимитохондриальные болезниген elac2 |
| spellingShingle | L. A. Gandaeva E. N. Basargina O. B. Kondakova V. G. Kaverina A. A. Pushkov O. P. Zharova P. P. Fisenko K. V. Savostyanov A new nucleotide variant in the <I>ELAC2</I> gene in a young child with a ventricular hypertrophy Rossijskij Vestnik Perinatologii i Pediatrii дети новорожденные гипертрофическая кардиомиопатия наследственные болезни митохондриальные болезни ген elac2 |
| title | A new nucleotide variant in the <I>ELAC2</I> gene in a young child with a ventricular hypertrophy |
| title_full | A new nucleotide variant in the <I>ELAC2</I> gene in a young child with a ventricular hypertrophy |
| title_fullStr | A new nucleotide variant in the <I>ELAC2</I> gene in a young child with a ventricular hypertrophy |
| title_full_unstemmed | A new nucleotide variant in the <I>ELAC2</I> gene in a young child with a ventricular hypertrophy |
| title_short | A new nucleotide variant in the <I>ELAC2</I> gene in a young child with a ventricular hypertrophy |
| title_sort | new nucleotide variant in the i elac2 i gene in a young child with a ventricular hypertrophy |
| topic | дети новорожденные гипертрофическая кардиомиопатия наследственные болезни митохондриальные болезни ген elac2 |
| url | https://www.ped-perinatology.ru/jour/article/view/1684 |
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