Article
A complex pheotype in a girl with a novel heterozygous missense variant (p.Ile56Phe) of the GNAS gene.
Orphanet journal of rare diseases - 23 Feb 2022
Cavarzere Paolo, Gastaldi Andrea, Elli Francesca Marta, Gaudino Rossella, Peverelli Erika, Brugnara Milena, Thiele Susanne, Granata Francesca, Mantovani Giovanna, Antoniazzi Franco
Abstract excerpt
BACKGROUND: GNAS is a complex gene that encodes Gsα, a signaling protein that triggers a complex network of pathways. Heterozygous inactivating mutations in Gsα-coding GNAS exons cause hormonal resistance; on the contrary, activating mutations in Gsα result in constitutive cAMP stimulation. Recent research has described a clinical condition characterized by both gain and loss of Gsα function, due to a...
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