Mutational Spectrum Associated With Oculocutaneous Albinism and Hermansky-Pudlak Syndrome in Nine Pakistani Families

This study examined the genetic basis of oculocutaneous albinism (OCA) and Hermansky-Pudlak syndrome (HPS) in nine Pakistani families using whole exome sequencing. It identified nine pathogenic variants in the TYR, OCA2, and HPS1 genes, including two novel variants. The research found that these genetic mutations were linked to symptoms such as nystagmus, decreased visual acuity, and depigmentation, with some individuals also showing syndromic features like epistaxis and respiratory infections. The findings underscore the genetic diversity and complexity of OCA and HPS in this population, highlighting the need for genetic screening and counseling to improve diagnosis and management.