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Article

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.

Clinical genetics - 1 Mar 2021

Gentile Mattia, Ranieri Carlotta, Loconte Daria C, Ponzi Emanuela, Ficarella Romina, Volpe Paolo, Scalzo Gabriele, Lepore Signorile Martina, Grossi Valentina, Cordella Angela, Ventola Giovanna Maria, Susca Francesco C, Turchiano Antonella, Simone Cristiano, Resta Nicoletta

Abstract excerpt

mTOR dysregulation has been described in pathological conditions, such as cardiovascular and overgrowth disorders. Here we report on the first case of a patient with a complex congenital heart disease and an interstitial duplication in the short arm of chromosome 1, encompassing part of the mTOR gene. Our results suggest that an intragenic mTOR microduplication might play a role in the pathogenesis of...

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Share to Chromosomes, Human, Pair 1
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

Share to Mitogen-Activated Protein Kinase Kinases

Share to Phosphatidylinositol 3-Kinases

Share to Proto-Oncogene Proteins c-akt

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Identifiers

PMID: 33236357
DOI: 10.1111/cge.13890

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