Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay

ConclusionGermline variants inPIK3CA are associated to a mild phenotype characterized by overgrowth, severe macrocephaly, mild intellectual disability, and few dysmorphic features. Investigations of PI3K/AKT/mTOR pathway should be performed in patients with severe macrocephaly and unspecific physical overgrowth. Longitudinal studies to assess prognosis and cancer predisposition are recommended.

Source: Molecular Genetics & Genomic Medicine - July 8, 2019 Category: Genetics & Stem Cells Authors: Marcella Zollino, Carlotta Ranieri, Valentina Grossi, Chiara Leoni, Serena Lattante, Daniela Mazz à, Cristiano Simone, Nicoletta Resta Tags: CLINICAL REPORT Source Type: research