ArticleMolecular genetics & genomic medicine2019
Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 10 citations in OpenAlex.
- Ocular Phenotypes and NovelGenes · 2026Article
- Clinical Manifestations and Genetic Spectrum of Oculocutaneous Albinism Type 2 in Chinese Patients.Genes · 2026Article
- Biallelic TYR and TKFC variants in Egyptian patients with OCA1 and new expanded TKFC features.BMC genomics · 2024Article
- Functional analysis of two mutation sites in the OCA2 gene.Scientific reports · 2024Article
- Genetic analyses of Vietnamese patients with oculocutaneous albinism.Journal of clinical laboratory analysis · 2022Article
- Genome-Wide Association Study for Screening and Identifying Potential Shin Color Loci in Ducks.Genes · 2022Article
- NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism.BMC genomics · 2022Article
- Article
- Database mining analysis revealed the role of the putative HChannels (Austin, Tex.) · 2021Article
- Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.Frontiers in genetics · 2021Article
- Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOculocutaneous albinism (OCA) is a group of heterogeneous autosomal recessive genetic disorder of melanin synthesis results in hypopigmented hair, skin, and eyes. OCA type 1, OCA type 2, and OCA type 4, which are respectively caused by mutations in TYR, OCA2, and SLC45A2 have high morbidity rates in Asia.
methodsTYR, OCA2, and SLC45A2 mutation analysis was carried out on 18 nonconsanguineous OCA patients and four fetuses were included for prenatal diagnose. Three genes of all individuals were amplified by polymerase chain reaction and examined by Sanger sequencing. The pathogenicity of the detected mutations were analyzed by Mutation Taster, PolyPhen 2, and SIFT software, and the conservation of the substituted amino acids were analyzed by MEGA software.
resultsEleven TYR mutations, three OCA2 mutations, and two SLC45A2 mutations were identified in 14 OCA type 1 patients, two OCA type 2 patients, and two OCA type 4 patients. c.1021A>G, p.R341G in TYR, c.1096_1104del, p.V366*, and c.1079C>T, p.S360F in OCA2 were novel. One of the four fetuses carried compound heterozygous mutation of TYR and became spontaneous abortion, the other three carried no mutations and appeared normal at birth.
conclusionIn this study, specific clinical characteristics of OCA patients were described. Three novel pathogenic mutations were identified which will enrich the mutation spectrum of OCA, and the prenatal genetic screening in fetus at risk of OCA can provide vital information for genetic counseling.
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