Improving genetic diagnostic yield in a large cohort of children with rare vascular anomalies or PIK3CA-related overgrowth spectrum.

ABSTRACT:

Purpose

Drugs that attenuate hyperactivation of the phosphatidylinositol 3-kinase-Akt and Ras-mitogen-activated protein kinase signaling pathways are emerging treatments for children with rare, intractable vascular anomalies or PIK3CA-related overgrowth spectrum (PROS) with an eligible genetic diagnosis. However, access to genetic testing remains a barrier to genetic diagnosis. Here, we implement a targeted molecular diagnostic strategy for vascular anomalies or PROS.

Methods

We applied a novel genetic testing strategy to children with vascular anomalies or PROS using a tiered approach of (1) droplet digital PCR, (2) Sanger sequencing, (3) high-depth exome sequencing, and (4) reanalysis of existing clinical exome data.

Results

We applied this strategy to 60 ind

SUBMITTER: Green TE 

PROVIDER: S-EPMC11613910 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature