Increasing the complexity: new genes and new types of albinism

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

doi:10.1111/pcmr.12167

Increasing the complexity: new genes and new types of albinism

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

Medical Genetics Program

119 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Pigment Cell & Melanoma Research
Vol/bind	27
Udgave nummer	1
Sider (fra-til)	11-8
Antal sider	8
ISSN	1755-1471
DOI	https://doi.org/10.1111/pcmr.12167
Status	Udgivet - jan. 2014

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10.1111/pcmr.12167

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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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T2 - new genes and new types of albinism

AU - Montoliu, Lluís

AU - Grønskov, Karen

AU - Wei, Ai-Hua

AU - Martínez-García, Mónica

AU - Fernández, Almudena

AU - Arveiler, Benoît

AU - Morice-Picard, Fanny

AU - Riazuddin, Saima

AU - Suzuki, Tamio

AU - Ahmed, Zubair M

AU - Rosenberg, Thomas

AU - Li, Wei

PY - 2014/1

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N2 - 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.

AB - 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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DO - 10.1111/pcmr.12167

M3 - Journal article

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JO - Pigment Cell and Melanoma Research

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Increasing the complexity: new genes and new types of albinism

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