Moura Paulyana, Cardoso-Dos-Santos Augusto César, Schuler-Faccini Lavinia
Universidade Federal do Rio Grande do Sul, Instituto de Biociências, Programa de Pós-graduação de Genética e Biologia Molecular, Porto Alegre, RS, Brazil.
Ministério da Saúde, Governo Federal, Brasília, DF, Brazil.
Genet Mol Biol. 2023 Dec 18;46(3 Suppl 1):e20230164. doi: 10.1590/1678-4685-GMB-2023-0164. eCollection 2023.
Oculocutaneous albinism (OCA) is a heterogeneous group of genetic disorders involving deficiencies in melanin biosynthesis, with consequent skin, hair, and eye hypopigmentation. The world prevalence is estimated at 1/17,000, but there is high variability among populations. The affected individuals, besides clinical complications, can suffer from discrimination. The Brazilian population is highly admixed, with isolated and inbred communities. Previous reports indicated the presence of diverse isolated communities with a high prevalence of OCA in Brazil. The present work sought to review and characterize clusters of albinism in this country based on scientific literature search, newspapers, and websites. We identified and characterized 18 clusters, 13 confirmed by scientific studies. Seven clusters are in the Northeast region, with predominant African ancestry, and seven others in indigenous communities, particularly among the Kaingaing in South Brazil. Isolation and inbreeding associated with founder effects seem to be the most plausible explanation. Molecular studies and clinical classification are still limited. Their localization in deprived regions with poor infrastructure makes them particularly vulnerable to the social and clinical consequences of lacking melanin. We reinforce the need for a tailored approach to these communities, including appropriate medical care, social support, and genetic counselling.
眼皮肤白化病（OCA）是一组遗传性疾病，其特征是黑色素生物合成缺陷，导致皮肤、头发和眼睛色素减退。全球患病率估计为1/17,000，但不同人群之间差异很大。患者除了有临床并发症外，还可能遭受歧视。巴西人口高度混合，有孤立和近亲繁殖的社区。先前的报告表明，巴西存在多个OCA患病率很高的孤立社区。本研究旨在通过科学文献检索、报纸和网站，对该国白化病群体进行综述和特征描述。我们识别并描述了18个群体，其中13个经科学研究证实。7个群体位于东北部地区，主要为非洲血统，另外7个群体位于土著社区，特别是巴西南部的卡因盖人当中。与奠基者效应相关的隔离和近亲繁殖似乎是最合理的解释。分子研究和临床分类仍然有限。他们位于基础设施差的贫困地区，这使得他们特别容易受到缺乏黑色素所带来的社会和临床后果的影响。我们强调需要针对这些社区采取量身定制的方法，包括适当的医疗护理、社会支持和遗传咨询。
