The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease.

ABSTRACT:

Purpose

This study investigated the diagnostic utility of nontargeted genomic testing in patients with pediatric heart disease.

Methods

We analyzed genome sequencing data of 111 families with cardiac lesions for rare, disease-associated variation.

Results

In 14 families (12.6%), we identified causative variants: seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six were inherited from parents with no or subclinical heart phenotypes (FLT4, DNAH9, MYH11, NEXMIF, NIPBL, PTPN11). Outcome of the testing was associated with the presence of extracardiac features (p = 0.02), but not a positive family history for cardiac lesions (p = 0.67). We also report novel plausible gene-disease associations for tetralogy of Fallot/pulmonary stenosis (CDC42BPA, FGD

SUBMITTER: Reuter MS 

PROVIDER: S-EPMC7272322 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature