A novel 5bp deletion in <i>HPS4</i> gene associates with Hermansky-Pudlak Syndrome

The identified pathogenic variant from this study emphasizes the importance of genetic analysis for accurate clinical diagnosis, management, and genetic diversity of HPS. To the best of our knowledge, this novel variant identified in the HPS4 gene causing Hermansky-Pudlak Syndrome is the first report deletion variant from the Indian population. Our findings will facilitate genetic counseling of the affected family and reduce the disease burden in future generations.