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

This study investigated the genetic basis of oculocutaneous albinism (OCA) in nine Pakistani families using whole exome sequencing (WES). The research identified biallelic variants in three genes associated with OCA: TYR, OCA2, and HPS1. Notably, two novel variants were discovered: c.667C > T: p.(Gln223*) in TYR and c.2009 T > C: p.(Leu670Pro) in HPS1. These findings enhance the understanding of the genetic diversity of OCA in Pakistani populations and support improved management and counseling for affected families.