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Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy.

Genes - 17 Aug 2020

Caiazza Martina, Rubino Marta, Monda Emanuele, Passariello Annalisa, Fusco Adelaide, Cirillo Annapaola, Esposito Augusto, Pierno Anna, De Fazio Federica, Pacileo Roberta, Evangelista Eloisa, Pacileo Giuseppe, Russo Maria Giovanna, Limongelli Giuseppe

Abstract excerpt

In this report, an atypical case of Noonan syndrome (NS) associated with sarcomeric hypertrophic cardiomyopathy (HCM) in a 33-year-old patient was described. Genetic testing revealed two different disease-causing mutations: a mutation in the PTPN11 gene, explaining NS, and a mutation in the MYBPC3 gene, known to be associated with HCM. This case exemplifies the challenge in achieving a definite etiological...

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Identifiers

PMID: 32824488
DOI: 10.3390/genes11080947
PMCID: PMC7463848

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