Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism,Molecular Genetics & Genomic Medicine

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Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism
Molecular Genetics & Genomic Medicine ( IF 1.5 ) Pub Date : 2023-10-26 , DOI: 10.1002/mgg3.2297
Beilei Jiang ₁ , Hua Zhang ₁ , Yuling Kan ₂ , Xueping Gao ₃ , Zhaoli Du ₃ , Quan Liu ₁

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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.

更新日期：2023-10-26

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