Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

doi:10.1038/s41431-024-01643-6

Article

Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

European journal of human genetics : EJHG - 1 Aug 2024

Gazzin Andrea, Fornari Federico, Niceta Marcello, Leoni Chiara, Dentici Maria Lisa, Carli Diana, Villar Anna Maria, Calcagni Giulio, Banaudi Elena, Massuras Stefania, Cardaropoli Simona, Airulo Elena, Daniele Paola, Monda Emanuele, Limongelli Giuseppe, Riggi Chiara, Zampino Giuseppe, Digilio Maria Cristina, De Luca Alessandro, Tartaglia Marco, Ferrero Giovanni Battista, Mussa Alessandro

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is the major contributor to morbidity and mortality in Noonan syndrome (NS). Gain-of-function variants in RAF1 are associated with high prevalence of HCM. Among these, NM_002880.4:c.770C > T, NP_002871.1:p.(Ser257Leu) accounts for approximately half of cases and has been reported as associated with a particularly severe outcome. Nevertheless, comprehensive studies on cases...

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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Abstract excerpt

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