Montoliu Lluís, Grønskov Karen, Wei Ai-Hua, Martínez-García Mónica, Fernández Almudena, Arveiler Benoît, Morice-Picard Fanny, Riazuddin Saima, Suzuki Tamio, Ahmed Zubair M, Rosenberg Thomas, Li Wei
Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain; CIBERER, ISCIII, Madrid, Spain.
Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8. doi: 10.1111/pcmr.12167. Epub 2013 Oct 17.
Albinism is a rare genetic condition globally characterized by a number of specific deficits in the visual system, resulting in poor vision, in association with a variable hypopigmentation phenotype. This lack or reduction in pigment might affect the eyes, skin, and hair (oculocutaneous albinism, OCA), or only the eyes (ocular albinism, OA). In addition, there are several syndromic forms of albinism (e.g. Hermansky-Pudlak and Chediak-Higashi syndromes, HPS and CHS, respectively) in which the described hypopigmented and visual phenotypes coexist with more severe pathological alterations. Recently, a locus has been mapped to the 4q24 human chromosomal region and thus represents an additional genetic cause of OCA, termed OCA5, while the gene is eventually identified. In addition, two new genes have been identified as causing OCA when mutated: SLC24A5 and C10orf11, and hence designated as OCA6 and OCA7, respectively. This consensus review, involving all laboratories that have reported these new genes, aims to update and agree upon the current gene nomenclature and types of albinism, while providing additional insights from the function of these new genes in pigment cells.
白化病是一种全球罕见的遗传疾病，其特征是视觉系统存在一些特定缺陷，导致视力不佳，并伴有可变的色素减退表型。这种色素缺乏或减少可能会影响眼睛、皮肤和头发（眼皮肤白化病，OCA），或者仅影响眼睛（眼白化病，OA）。此外，还有几种综合征型白化病（例如分别为Hermansky-Pudlak综合征和Chediak-Higashi综合征，即HPS和CHS），其中所述的色素减退和视觉表型与更严重的病理改变共存。最近，一个基因座已被定位到人类染色体4q24区域，因此代表了OCA的另一种遗传病因，称为OCA5，而该基因最终被确定。此外，已鉴定出两个新基因在发生突变时会导致OCA：SLC24A5和C10orf11，因此分别被指定为OCA6和OCA7。这项由所有报告了这些新基因的实验室参与的共识性综述，旨在更新并就当前的基因命名和白化病类型达成一致，同时提供这些新基因在色素细胞中的功能的更多见解。
