PIK3CA Mutations in PROS

PIK3CA mutations are at the root of PIK3CA-Related Overgrowth Spectrum (PROS) disorders

PROS disorders are understood to share a single cause: somatic mutations of the PIK3CA gene.1

DNA icon
The PIK3CA gene codes for the α isoform of PI3K, which is known to be involved in cell development and growth.1-3
Mutated DNA icon
When mutated, the PIK3CA gene can drive unchecked cellular growth and proliferation.1-3
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In the case of PROS, the mutation occurs during embryonic development, resulting in a mosaic overgrowth pattern (ie, patches of affected and unaffected areas).1

Mechanism of Disease video

Discover how PIK3CA mutations are at the root of PROS disorders.

  1. Keppler-Noreuil KM, Rios JJ, Parker VER, et al. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation. Am J Med Genet A. 2015;167A(2):287-295.
  2. Keppler-Noreuil KM, Sapp JC, Lindhurst MJ, et al. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum. Am J Med Genet A. 2014;164A(7):1713-1733.
  3. Lindhurst MJ, Parker VER, Payne F, et al. Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. Nat Genet. 2012;44(8):928-933.