METHODS: Whole-exome and direct sequencing were used for variant analysis. Review of previously reported cases was performed.
RESULTS: Mutation analysis revealed DST mutations in five patients belonging to three families. Two variants have not been previously reported: c.7097dupA (p.Tyr2366X) and c.7429delC (p.Leu2477Serfs*13). We identified an additional six cases in the literature, bringing the total number of individuals affected with EBS due to DST variants to 11. Patients displayed distinctive phenotypes regardless of the causative variant.
CONCLUSIONS: The current study expands the clinical and genetic spectrum of DST-associated EBS subtype.