Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients

Albinism is a genetically heterogeneous trait with a prevalence of 1:17,000 worldwide. At least 22 genes have been identified as the causative genes of albinism in humans. These involved 10 genes in nonsyndromic albinism and 12 syndromic albinism genes (Fernández et al., 2021). Because the disease gene mutation is population specific, it is important to investigate the spectrum of disease gene and allele distribution in the Chinese population for the precise intervention of this disease in their early lives.