КФУ. Карточка публикации. The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene

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THE BASIS OF DIVERSITY IN LAMINOPATHY PHENOTYPES CAUSED BY VARIANTS IN THE INTRON 8 DONOR SPLICE SITE OF THE LMNA GENE

Форма представления

Статьи в зарубежных журналах и сборниках

Год публикации

2025

Язык

русский

Авторы, сотрудники КФУ

Вафина Зульфия Ильсуровна, автор

Чигвинцева Полина Евгеньевна, автор

Авторы, аспиранты КФУ

Чигвинцева Полина Евгеньевна, автор

Библиографическое описание на языке оригинала

Shchagina, O., Gilazova, L., Filatova, A., Vafina, Z., Murtazina, A., Chigvintceva, P., Kudryashova, O., Polyakov, A., Kutsev, S., Bulakh, M., & Skoblov, M. (2025). The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene. International Journal of Molecular Sciences, 26(3), 1015. https://doi.org/10.3390/ijms26031015

Аннотация

International Journal of Molecular Sciences

Ключевые слова

LMNA; laminopathia; cardiomyopathy; limb?girdle muscular dystrophy; lipodystrophy; splicing

Название журнала

International Journal of Molecular Sciences

URL

https://www.mdpi.com/1422-0067/26/3/1015

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https://repository.kpfu.ru/?p_id=309877

Полная запись метаданных

Поле DC	Значение	Язык
dc.contributor.author	Вафина Зульфия Ильсуровна	ru_RU
dc.contributor.author	Чигвинцева Полина Евгеньевна	ru_RU
dc.contributor.author	Чигвинцева Полина Евгеньевна	ru_RU
dc.date.accessioned	2025-01-01T00:00:00Z	ru_RU
dc.date.available	2025-01-01T00:00:00Z	ru_RU
dc.date.issued	2025	ru_RU
dc.identifier.citation	Shchagina, O., Gilazova, L., Filatova, A., Vafina, Z., Murtazina, A., Chigvintceva, P., Kudryashova, O., Polyakov, A., Kutsev, S., Bulakh, M., & Skoblov, M. (2025). The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene. International Journal of Molecular Sciences, 26(3), 1015. https://doi.org/10.3390/ijms26031015	ru_RU
dc.identifier.uri	https://repository.kpfu.ru/?p_id=309877	ru_RU
dc.description.abstract	International Journal of Molecular Sciences	ru_RU
dc.description.abstract	Laminopathies are a broad spectrum of hereditary diseases caused by pathogenic variants of the LMNA gene. Such phenotypic diversity is explained by the function of intermediate filaments encoded by the LMNA gene. We examined a family with an overlapping phenotype of cardiac arrhythmia, cardiomyopathy, limb?girdle muscular dystrophy, and partial lipodystrophy. The cause of the disorder was a novel LMNA(NM_170707.4):c.1488+2T>C variant. The analysis of mRNA extracted from the probands? blood showed a multitude of alternative splicing products, which was the cause of the complex phenotype in affected family members. Aside from that, we used minigene constructs to analyze the c.1488+2T>C variant, as well as other previously described variants affecting the same donor splice site in intron 8 (c.1488+1G>A, c.1488+5G>C, c.1488+5G>A). We demonstrated that these variants result in multiple splicing events, each producing splicing products with varying prevalence.	ru_RU
dc.language.iso	ru	ru_RU
dc.subject		ru_RU
dc.title	The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene	ru_RU
dc.type	Статьи в зарубежных журналах и сборниках	ru_RU