Uncovering somatic mosaic variants of PIK3CA-related overgrowth disorders - three cases with different clinical presentations.

ABSTRACT:

Introduction

PIK3CA related disorders (PRD, OMIM: *171834) are genetic disorders resulting from pathogenic somatic mosaic variants in the PIK3CA gene, which encodes a protein crucial for regulating cell growth and division. PRD typically manifest during the post-zygotic phase, leading to a broad spectrum of overgrowth and vascular malformations affecting various body regions.

Methods

Conventional diagnostic methods struggle to detect and confirm pathogenic PIK3CA gene variants due to the mosaic nature of these disorders and the limited accessibility of affected tissues. In this study, we conducted comprehensive genomic profiling on a cohort of individuals with PRD to address these diagnostic challenges.

Results

Our analysis revealed significant diagnosti

SUBMITTER: Tooming M 

PROVIDER: S-EPMC11769973 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature