Identification of TYR mutations in patients with oculocutaneous albinism

Oculocutaneous albinism (OCA) is a set of autosomal recessive disorders characterized by hypopigmented hair, skin and eyes. Homozygous or compound heterozygous mutations in the tyrosinase (TYR) gene can cause OCA1, which is the most common and severe subtype of albinism. In the present study, 17 patients with non‑syndromic OCA were enrolled from eight provinces of China and were non‑consanguineous, with the exception of Patient 4000301. Total genomic DNA was isolated from peripheral blood. Screening was performed for the whole exons and their flanking regions of the TYR gene using Sanger sequencing and the pathogenicity of variants was predicted using in silico analysis. In total, 12 TYR mutations were identified in 10 patients, respectively. Of these, two patients carried homozygous mutations and eight patients carried compound heterozygous mutations. Among the 12 TYR mutations, two missense mutations c.1198T>G (p.W400G) and c.819G>T (p.Q273H) were novel. The results of the present study expand the mutation spectrum of the TYR gene, which may further assist in the prenatal examination and genetic diagnosis of OCA.