Article
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2021
Cottrell Catherine E, Bender Nicole R, Zimmermann Michael T, Heusel Jonathan W, Corliss Meagan, Evenson Michael J, Magrini Vincent, Corsmeier Donald J, Avenarius Matthew, Dudley Jeffrey N, Johnston Jennifer J, Lindhurst Marjorie J, Vigh-Conrad Katinka, Davies Olivia M T, Coughlin Carrie C, Frieden Ilona J, Tollefson Megha, Zaenglein Andrea L, Ciliberto Heather, Tosi Laura L, Semple Robert K, Biesecker Leslie G, Drolet Beth A
Abstract excerpt
PURPOSE: Somatic activating variants in the PI3K-AKT pathway cause vascular malformations with and without overgrowth. We previously reported an individual with capillary and lymphatic malformation harboring a pathogenic somatic variant in PIK3R1, which encodes three PI3K complex regulatory subunits. Here, we investigate PIK3R1 in a large cohort with vascular anomalies and identify an additional 16 individuals...
Topics
- Class Ia Phosphatidylinositol 3-Kinase
- Humans
- Limb Deformities, Congenital
- Mutation
- Phosphatidylinositol 3-Kinases
- Signal Transduction
- Vascular Malformations