Article
Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Human molecular genetics - 23 Aug 2022
Motta Marialetizia, Solman Maja, Bonnard Adeline A, Kuechler Alma, Pantaleoni Francesca, Priolo Manuela, Chandramouli Balasubramanian, Coppola Simona, Pizzi Simone, Zara Erika, Ferilli Marco, Kayserili Hülya, Onesimo Roberta, Leoni Chiara, Brinkmann Julia, Vial Yoann, Kamphausen Susanne B, Thomas-Teinturier Cécile, Guimier Anne, Cordeddu Viviana, Mazzanti Laura, Zampino Giuseppe, Chillemi Giovanni, Zenker Martin, Cavé Hélène, den Hertog Jeroen, Tartaglia Marco
Abstract excerpt
We previously molecularly and clinically characterized Mazzanti syndrome, a RASopathy related to Noonan syndrome that is mostly caused by a single recurrent missense variant (c.4A > G, p.Ser2Gly) in SHOC2, which encodes a leucine-rich repeat-containing protein facilitating signal flow through the RAS-mitogen-associated protein kinase (MAPK) pathway. We also documented that the pathogenic p.Ser2Gly substitution...
Topics
- Abnormalities, Multiple
- Humans
- Intracellular Signaling Peptides and Proteins
- Loose Anagen Hair Syndrome
- Phenotype
- ras Proteins