ArticleAmerican journal of human genetics1995
An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 60 citations in OpenAlex.
- Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review.Investigative ophthalmology & visual science · 2023Pooled it
- Diagnostic discovery of structural variants causing foveal hypoplasia using SVRare and long-read nanopore sequencing.European journal of human genetics : EJHG · 2026Article
- Albinism research in a Southern African setting: unique findings.Journal of community genetics · 2025Review
- Seeing in Color: Inclusion and Characterization of Hereditary Eye Disease in African Americans.Translational vision science & technology · 2024Review
- [A case for the inclusion of oculocutaneous albinism as a skin-related Neglected Tropical Disease].Medecine tropicale et sante internationale · 2023Article
- Article
- Oculocutaneous albinism in southern Africa: Historical background, genetic, clinical and psychosocial issues.African journal of disability · 2022Article
- A custom capture sequence approach for oculocutaneous albinism identifies structural variant alleles at the OCA2 locus.Human mutation · 2021Article
- A new type of oculocutaneous albinism with a novel OCA2 mutation.Yeungnam University journal of medicine · 2021Article
- Histopathologic patterns of cutaneous malignancies in individuals with oculocutaneous albinism in Anambra state, Nigeria: a paradigm swing?Ecancermedicalscience · 2020Article
- Oculocutaneous Albinism and Squamous Cell Carcinoma of the Skin of the Head and Neck in Sub-Saharan Africa.Journal of skin cancer · 2015Review
- Mutational analysis of oculocutaneous albinism: a compact review.BioMed research international · 2014Review
- DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.Human mutation · 2013Review
- Molecular and clinical characterization of albinism in a large cohort of Italian patients.Investigative ophthalmology & visual science · 2011Article
- Two cases of burns in children from French Guinea with oculocutaneous albinism.Annals of burns and fire disasters · 2010Article
- Hermansky-Pudlak syndrome in two African-American brothers.American journal of medical genetics. Part A · 2009Article
- Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.Journal of human genetics · 2007Article
- Albinism in Africa as a public health issue.BMC public health · 2006Article
- Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico.The Journal of investigative dermatology · 2006Article
- Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tyrosinase-positive oculocutaneous albinism (OCA2), an autosomal recessive disorder of the melanin biosynthetic pathway, is the most common recessive disorder occurring in southern African Bantu-speaking Negroids, with an overall prevalence of 1/3,900. The OCA2 gene, P, has been mapped to chromosome 15q11-q13, and recently alterations in the P gene have been identified in OCA2 individuals. An intragenic deletion has been described and proposed to be of African origin because of its occurrence in four unrelated African American OCA2 individuals and in two individuals, one from Zaire and the other from Cameroon. This study shows that the intragenic deletion is a common cause of OCA2 in southern African Negroids (114/146 [.78]; OCA2 chromosomes) and is associated with one common haplotype (43/55 [.78]; OCA2 chromosomes), confirming the African origin of this allele. On the basis of haplotype data, it would appear that at least seven additional, less frequent OCA2 mutations occur in this population.
Indexed as
Identifiers
7887411PMC1801183W37289312What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.