ArticleBMC medical genetics2019
Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
Article in BMC medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 30 citations in OpenAlex.
- Clinical Manifestations and Genetic Spectrum of Oculocutaneous Albinism Type 2 in Chinese Patients.Genes · 2026Article
- Mild Oculocutaneous Albinism Type 1B With Subtle Cutaneous Findings: A Dermatology-Oriented Case Report.Cureus · 2026Article
- Case Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in theFrontiers in pediatrics · 2025Article
- Successful treatment of retinopathy of prematurity in oculocutaneous albinism with OCA2 variants: a case report and review of literature.BMC pediatrics · 2024Review
- Evaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 μs Molecular Dynamics Simulation.International journal of molecular sciences · 2023Article
- Structural insights into pink-eyed dilution protein (Oca2).Bioscience reports · 2023Article
- Human Skin Pigmentation: From a Biological Feature to a Social Determinant.Healthcare (Basel, Switzerland) · 2023Review
- Non-neutralizing antibodies to SARS-Cov-2-related linear epitopes induce psychotic-like behavior in mice.Frontiers in molecular neuroscience · 2023Article
- Identification of Polymorphisms in theThe journal of poultry science · 2023Article
- Genetic analyses of Vietnamese patients with oculocutaneous albinism.Journal of clinical laboratory analysis · 2022Article
- Identification and characterization of two novel noncoding tyrosinase (TYR) gene variants leading to oculocutaneous albinism type 1.The Journal of biological chemistry · 2022Article
- Oculocutaneous albinism and bleeding diathesis due to a novel deletion in theFrontiers in genetics · 2022Article
- Two Novel HomozygousLife (Basel, Switzerland) · 2021Article
- A new type of oculocutaneous albinism with a novel OCA2 mutation.Yeungnam University journal of medicine · 2021Article
- Article
- Genetic Analysis of 28 Chinese Families With Tyrosinase-Positive Oculocutaneous Albinism.Frontiers in genetics · 2021Article
- Comorbidity of sickle cell trait and albinism: a cross-sectional survey in the Democratic Republic of the Congo.The Pan African medical journal · 2020Article
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12 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundOculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for most oculocutaneous albinism. However, the incidence of oculocutaneous albinism patients in Guangxi remains unclear.
methodsTo evaluate the molecular basis of oculocutaneous albinism in thirty-six patients in Guangxi, China. Peripheral venous blood samples were collected from these unrelated patients. The TYR and OCA2 genes of all individuals were analyzed by direct DNA sequencing and the sequences compared with are reference database and bioinformatics analysis.
resultsAmong the 36 OCA patients, 8(22.2%) were found mutations on TYR gene, 28 (77.8%) on OCA2. And we identified Twenty-seven different TYR and OCA2 mutations in these patients, including one novel TYR framshift mutation c.561_562insTTATTATGTGTCAAATTATCCCCCA, three novel OCA2 mutations: one nonsense mutation c.2195C > G(p.S732X), one deletation mutation(c.1139-1141delTGG), one missense mutations c.2495A > C(p.H832P). The population screening and the bioinformatic analysis to determined the effects of the mutations, which revealed these four novel mutations were pathogenic.
conclusionsThis study expands the mutation spectrum of oculocutaneous albinism. Four novel mutational alleles c.1139-1141delTGG, c.1832 T > C and c.2195C > G and of the OCA2 gene and c.561_562insTTATTATGTGTCAAATTATCCCCCA of TYR were associated with OCA. The genotype-phenotype correlations suggest that molecular diagnosis is more accurate and important in OCA.
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