Quan-Ze He

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome

This study provides the first definitive evidence that a synonymous DHCR7 variant can act as a likely pathogenic allele through splicing disruption and offers critical molecular insight and a refined framework for interpreting synonymous variants—particularly variants of uncertain significance—with important implications for clinical diagnosis, genetic counseling, and prenatal care.