Hermansky-Pudlak syndrome type2

This study investigated a Chinese 13-year-old girl with severe periodontitis who was diagnosed as HPS2 by peripheral blood analysis, Transmission electron microscopy (TEM) analysis and genetic analysis. By using whole-exome sequencing (WES), potential pathogenic variants were explored. Variants were screened and filtered through bioinformatic analysis and prediction of variant pathogenicity. Cosegregation was subsequently conducted.