Mutations in the PIK3CA gene have been identified as the cause for<unk> . The mutation is de novo and mosaic meaning it's new, not inherited and not occurring in every cell. One of the DNA nucleotides was altered, causing a change in the amino acid put being into the protein, referred to as a missense mutation, and for PROS, this gives an overactivity, "gain-of-function". The gene is a part of PI3K-AKT/mTOR pathway, a pathway crucial to cell growth, survival, angiogenesis and proliferation. Illustration of the PIK3CA Related Overgrowth Spectrum
Facial infiltrating lipomatosis
Diabetic bulla
Acral nevus
Acne cosmetica
Tar melanosis
Woolly hair nevus
Linitis plastica
Benign symmetric lipomatosis