Increasing the complexity: new genes and new types of albinism |
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| Authors: | Lluís Montoliu Karen Grønskov Ai‐Hua Wei Mónica Martínez‐García Almudena Fernández Benoît Arveiler Fanny Morice‐Picard Saima Riazuddin Tamio Suzuki Zubair M Ahmed Thomas Rosenberg Wei Li |
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| Institution: | 1. Department of Molecular and Cellular Biology, National Centre for Biotechnology (CNB‐CSIC), Campus de Cantoblanco, , Madrid, Spain;2. CIBERER, ISCIII, , Madrid, Spain;3. Applied Human Molecular Genetics, Kennedy Center, Copenhagen University Hospital, , Copenhagen, Denmark;4. Department of Cellular and Molecular Medicine, University of Copenhagen, , Copenhagen, Denmark;5. Department of Dermatology, Beijing Tongren Affiliated Hospital of Capital Medical University, , Beijing, China;6. Maladies Rares: Génétique et Métabolisme (MRGM) EA4576, Univ. Bordeaux, , Bordeaux, France;7. Service de Génétique Médicale, CHU de Bordeaux, , Bordeaux, France;8. Divisions of Pediatric Ophthalmology and Otolaryngology, Cincinnati Children's Hospital Research Foundation, , Cincinnati, OH, USA;9. Departments of Ophthalmology and Otolaryngology, University of Cincinnati, , Cincinnati, OH, USA;10. Department of Dermatology, Faculty of Medicine, Yamagata University, , Yamagata, Japan;11. National Eye Clinic for the Visually Impaired, Kennedy Center, Copenhagen University Hospital, , Copenhagen, Denmark;12. Institute of Clinical Medicine, Faculty of Health, University of Copenhagen, , Copenhagen, Denmark;13. State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, , Beijing, China |
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| Abstract: | 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. |
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| Keywords: | albinism vision melanin genes diagnosis |
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