KFU. Card publication. The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of the LMNA Gene

KAZAN
FEDERAL UNIVERSITY

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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

Form of presentation

Articles in international journals and collections

Year of publication

2025

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Authors, employees of KFU

Vafina Zulfiya Ilsurovna, author

Chigvinceva Polina Evgenevna, author

Authors, postgraduates KFU

Chigvinceva Polina Evgenevna, postgraduate kfu

Bibliographic description in the original language

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

Annotation

International Journal of Molecular Sciences

Keywords

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

The name of the journal

International Journal of Molecular Sciences

URL

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

Please use this ID to quote from or refer to the card

https://repository.kpfu.ru/eng/?p_id=309877&p_lang=2

Full metadata record

Field DC	Value	Language
dc.contributor.author	Vafina Zulfiya Ilsurovna	ru_RU
dc.contributor.author	Chigvinceva Polina Evgenevna	ru_RU
dc.contributor.author	Chigvinceva Polina Evgenevna	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/eng/?p_id=309877&p_lang=2	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	Articles in international journals and collections	ru_RU