Genetic analysis of albinism caused by compound heterozygous mutation of OCA2 gene in a Chinese family
Release date:
2023-08-29
Description:
We report a case of OCA2-type albinism diagnosed with symptoms such as white skin, blue iris, yellow hair, and decreased vision. The whole exome sequencing (WES) and Sanger sequencing of the patient confirmed the presence of compound heterozygous mutations in the OCA2 gene at exons 13, 14, and 22, with the c.1258G>A mutation in exon 13 being a novel mutation. Based on nucleotide and amino acid sequence analysis, this compound heterozygous mutation may be the main cause of disease development. Our research results have expanded the OCA2 gene mutation database related to OCA2-type albinism, providing more favorable information for clinical disease diagnosis.
Organization: Luoyang Maternal and Child Health Hospital
Submission date: 2023-08-22
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