Trio Exome Sequencing in VACTERL Association.

ABSTRACT:

Introduction

Currently, there is only limited data on monogenic causes of vertebral defects, anorectal malformations, cardiac defects, esophageal atresia or tracheoesophageal fistula, renal malformations, and limb defects (VACTERL) association. The aim of this study was to extend the spectrum of disease-causing variants in known genes, to determine the diagnostic yield of monogenic causes, and to identify candidate genes and rare variants by applying comprehensive genetic testing or rare variant burden.

Methods

The total cohort comprised 101 affected individuals and their parents. Trio exome sequencing was only performed in 96 individuals and their parents because of DNA quality reasons and case-control gene and pathway burden tests were calculated and evaluated by quantile-

SUBMITTER: Comic J 

PROVIDER: S-EPMC11993224 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature