Increasing the complexity: new genes and new types of albinism.
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.
Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain; CIBERER, ISCIII, Madrid, Spain.
Lluís
L
Montoliu
Karen
K
Grønskov
Ai-Hua
AH
Wei
Mónica
M
Martínez-García
Almudena
A
Fernández
Benoît
B
Arveiler
Fanny
F
Morice-Picard
Saima
S
Riazuddin
Tamio
T
Suzuki
Zubair M
ZM
Ahmed
Thomas
T
Rosenberg
Wei
W
Li
D000417:Albinism / Q000145:classification / Q000235:genetics / Q000473:pathology; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D012880:Skin Pigmentation / Q000235:genetics*
D026901:Membrane Transport Proteins
albinism; diagnosis; genes; melanin; vision