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Article

Noonan syndrome patient-specific induced cardiomyocyte model carrying SOS1 gene variant c.1654A>G.

Experimental cell research - 1 Mar 2021

Gurusamy Narasimman, Rajasingh Sheeja, Sigamani Vinoth, Rajasingh Reshma, Isai Dona Greta, Czirok Andras, Bittel Douglas, Rajasingh Johnson

Abstract excerpt

Noonan syndrome (NS) is a dominant autosomal genetic disorder, associated with mutations in several genes that exhibit multisystem abnormal development including cardiac defects. NS associated with the Son of Sevenless homolog 1 (SOS1) gene mutation attributes to the development of cardiomyopathy and congenital heart defects. Since the treatment option for NS is very limited, an in vitro disease model with SOS1...

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Identifiers

PMID: 33549576
DOI: 10.1016/j.yexcr.2021.112508
PMCID: PMC8542457

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