Article
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.
European journal of medical genetics - 1 Oct 2022
Schönewolf-Greulich Bitten, Karstensen Helena Gásdal, Hjortshøj Tina D, Jørgensen Finn Stener, Harder Katja M, Frevert Susanne, Hove Hanne, Diness Birgitte R
Abstract excerpt
Mosaic PIK3R1 variants have recently been demonstrated in patients with complex vascular malformations and overgrowth in a syndrome resembling PIK3CA-related overgrowth syndrome (PROS). The PIK3CA-inhibitor, alpelisib, seems to be a promising treatment option for PROS patients. We describe a young boy with overgrowth and a pathogenic mosaic variant in PIK3R1; c.1699A > G, p.(Lys567Glu). He was prenatally...
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- Child
- Class I Phosphatidylinositol 3-Kinases
- Class Ia Phosphatidylinositol 3-Kinase
- Early Diagnosis
- Female