Back to research

Research paper

Brain overgrowth in disorders of RTK-PI3K-AKT signaling — A mosaic of malformations

Germline mutations trend toward whole-brain overgrowth; postzygotic somatic mutations trend toward hemimegalencephaly or focal cortical dysplasia. Describes the somatic-mosaicism gradient along the RTK-PI3K-AKT axis.

Indexed context

Mirzaa GM, Poduri A

pi3k-akt-mtorsomatic-mosaicismbrain-overgrowth

Markdown path

content/research/papers/2014-mirzaa-brain-overgrowth-mosaic.md

Findings

Germline mutations trend toward whole-brain overgrowth; postzygotic somatic mutations trend toward hemimegalencephaly or focal cortical dysplasia. Describes the somatic-mosaicism gradient along the RTK-PI3K-AKT axis.

Why it may matter for Levi

Supports considering a germline mechanism in a symmetric-overgrowth phenotype like Levi's, and simultaneously argues for not dismissing low-mosaicism somatic variants if blood-only WES is negative. Motivates the potential need for affected-tissue testing downstream if blood WES is non-diagnostic.

Paper text

Brain overgrowth in disorders of RTK-PI3K-AKT signaling — A mosaic of malformations

Mirzaa GM, Poduri A — American Journal of Medical Genetics Part C (2014). https://pmc.ncbi.nlm.nih.gov/articles/PMC4268391/

Findings summary

Germline mutations trend toward whole-brain overgrowth; postzygotic somatic mutations trend toward hemimegalencephaly or focal cortical dysplasia. Describes the somatic-mosaicism gradient along the RTK-PI3K-AKT axis.

Relevance to Levi

Supports considering a germline mechanism in a symmetric-overgrowth phenotype like Levi's, and simultaneously argues for not dismissing low-mosaicism somatic variants if blood-only WES is negative. Motivates the potential need for affected-tissue testing downstream if blood WES is non-diagnostic.

Provenance

  • Ingested 2026-04-16 as part of the batch literature pass supporting the Root Cause Theories, diagnostics, and treatments workspaces.
  • No PDF ingested into storage/; canonical link is the URL above.
  • Companion memo: content/research/notes/2026-04-16-literature-pass.md