SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature

The review examines the impact of SASH1 mutations on hereditary pigmentation disorders, particularly dyschromatosis universalis hereditaria (DUH) and lentiginosis, identifying 22 mutations affecting 135 patients from 24 families. These mutations are mostly autosomal dominant, with one autosomal recessive case linked to alopecia and carcinomas. SASH1 plays a crucial role in melanocyte biology, influencing melanogenesis, melanosome transport, and melanocyte migration, leading to pigmentation disorders. The study highlights the ethnic prevalence of SASH1 variants, mainly in Chinese and Japanese individuals, and underscores the gene's potential in developing therapeutic strategies for pigmentation disorders. Further research is needed to explore SASH1's role in skin pigmentation fully.