Article
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".
Human mutation - 1 Mar 2016
Di Donato Nataliya, Rump Andreas, Mirzaa Ghayda M, Alcantara Diana, Oliver Antony, Schrock Evelin, Dobyns William B, O'Driscoll Mark
Abstract excerpt
Activating somatic PIK3CA mutations underlie a growing heterogeneous spectrum of segmental overgrowth disorders. We report the identification and evaluation of a novel de novo constitutional PIK3CA mutation (NM_006218.2:c.335T>A, p.Ile112Asn) in a child with congenital megalencephaly and macrosomia. Functional characterization of patient cells using a variety of endpoints demonstrates increased...
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