AB151. CHD7 variants identified by next-generation sequencing

Abstract

Background CHARGE syndrome is a genetic disorder with clinical features including ocular coloboma, heart defects, choanal atresia, retardation or developmental delay, genital hypoplasia, ear anomalies and deafness. Mutations in chromodomain helicase DNA binding protein 7 (CHD7) regulatory gene have been associated with this syndrome. CHD7 gene mutations accounted for more than half of patients with CHARGE syndrome. Advancement of next-generation sequencing technologies like the introduction of bench-top next-generation sequencers has enabled cost-effective and accurate detection of mutations in large genes or disorders which are difficult to diagnose clinically. Molecular diagnosis based solely on Sanger sequencing is time consuming and less efficient. The aim of this study was to test the ability of a targeted gene panel and bench-top sequencing to molecularly diagnose patients with CHARGE syndrome.