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Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies.

Cells - 16 Jan 2023

Vadrot Nathalie, Ader Flavie, Moulin Maryline, Merlant Marie, Chapon Françoise, Gandjbakhch Estelle, Labombarda Fabien, Maragnes Pascale, Réant Patricia, Rooryck Caroline, Probst Vincent, Donal Erwan, Richard Pascale, Ferreiro Ana, Buendia Brigitte

Abstract excerpt

A single missense variant of the TMPO/LAP2α gene, encoding LAP2 proteins, has been associated with cardiomyopathy in two brothers. To further evaluate its role in cardiac muscle, we included TMPO in our cardiomyopathy diagnostic gene panel. A screening of ~5000 patients revealed three novel rare TMPO heterozygous variants in six males diagnosed with hypertrophic or dilated cardiomypathy. We identified in...

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Identifiers

PMID: 36672271
DOI: 10.3390/cells12020337
PMCID: PMC9857342

Genes

TMPO
E2F1
HMGN5

Variants

Provenance

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