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Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case.

Molecular genetics & genomic medicine - 1 Feb 2024

He Danyue, Liu Xiaonan, Yao Tianyu, Hu Jie, Zheng Xiaodong, Tang Lili, Fan Xing

Abstract excerpt

BACKGROUND: Oculocutaneous albinism type 4 (OCA4) is a rare autosomal recessive disorder characterized by a reduction of pigmentation in skin, hair, and eyes, and OCA4 is mainly seen in the SLC45A2 gene variants. OBJECTIVE: To report a Chinese patient suspected of oculocutaneous albinism and identify the causing mutation. METHODS: Genomic DNA was extracted from the peripheral blood samples of the patient, his...

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PMID: 38337174
DOI: 10.1002/mgg3.2385
PMCID: PMC10858317

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