Article
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Molecular genetics & genomic medicine - 1 Jan 2024
Jiang Beilei, Zhang Hua, Kan Yuling, Gao Xueping, Du Zhaoli, Liu Quan
Abstract excerpt
BACKGROUND: Oculocutaneous albinism (OCA) is a group of rare autosomal recessive disorders characterized by clinical genetic heterogeneity. OCA type II (OMIM: 203200) is the most common subtype among African and African Americans, primarily caused by pathogenic variants in the OCA2 (HGNC ID: 8101) gene. In this study, we presented a Chinese family with OCA and reported two novel variants in the OCA2 gene....
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