Objective Genetic diagnosis and genetic counseling were performed for five patients with oculocutaneous albinism.Methods The study collected clinical phenotypes of patients and extracted genomic DNA from peripheral blood samples of proband and their parents.The DNA of the proband was sequenced by whole exome and the mutation site was verified by parents.The mutation sites were interpreted according to the variation guidelines of ACMG,and the pathogenicity of the unreported new sites was analyzed.Results The results of the whole exome sequencing indicate the following mutations:Case 1:TYR c.1181A＞G p.D394G(homozygous mutation);Case 2:TYR c.929dupC p.R311K fs*7(paternal)and c.709G＞A p.D237N(maternal)compound heterozygous mutation;Case 3:TYR c.896G＞A p.R299H(paternal)and c.593T＞G p.1198S(maternal)compound heterozygous mutation;Case 4:TYR c.1199G＞T p.W400L(homozygous mutation);Case 5:TYRP1 c.1057_1060del p.N353Vfs*31(paternal)and c.1409-2A＞T(maternal)compound heterozygous mutation.Five patients with albinism were diagnosed and typed by clinical phenotype and gene mutation.Conclusion Molecular testing is crucial for ac-curately diagnosing and classifying patients with OCA due to the significant overlap in clinical manifestations.Our study identified two previously unknown mutation sites in the TYR gene,specifically c.1181A＞G p.D394G and c.709G＞A p.D237N,as well as a new mutation site in the TYRP1 gene,c.1409-2A＞T.The discovery of new gene mutation loci has expanded the genotypic and phenotypic spectrum of oculocutaneous albinism.This provides guidance for patients and their parents regard-ing reproduction.
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