Genetics of non‐syndromic and syndromic oculocutaneous albinism in human and mouse

Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally associated with variable alterations in pigmentation and with a profound visual impairment. There are non‐syndromic and syndromic types of OCA, depending on whether the gene...

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Published inPigment cell and melanoma research Vol. 34; no. 4; pp. 786 - 799
Main Authors Fernández, Almudena, Hayashi, Masahiro, Garrido, Gema, Montero, Andrea, Guardia, Ana, Suzuki, Tamio, Montoliu, Lluis
Format Journal Article
LanguageEnglish
Published England Wiley Subscription Services, Inc 01.07.2021
Subjects
Albinism
Albinism, Oculocutaneous - genetics
Animals
Anterior segment dysgenesis syndrome
Chediak–Higashi Syndrome
Disease Models, Animal
Genetic Predisposition to Disease
Genetics
Hermansky–Pudlak Syndrome
Humans
Hypoplasia
melanin
Melanins - metabolism
Melanosomes
Mice
Ocular albinism
oculocutaneous albinism
Optic nerve
Organelles
Pigmentation
rare diseases
Skin pigmentation
Syndrome
rare diseases
pigmentation
melanin
Chediak-Higashi Syndrome
Hermansky-Pudlak Syndrome
oculocutaneous albinism
albinism
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Summary:Oculocutaneous albinism (OCA) is the most frequent presentation of albinism, a heterogeneous rare genetic condition generally associated with variable alterations in pigmentation and with a profound visual impairment. There are non‐syndromic and syndromic types of OCA, depending on whether the gene product affected impairs essentially the function of melanosomes or, in addition, that of other lysosome‐related organelles (LROs), respectively. Syndromic OCA can be more severe and associated with additional systemic consequences, beyond pigmentation and vision alterations. In addition to OCA, albinism can also be presented without obvious skin and hair pigmentation alterations, in ocular albinism (OA), and a related genetic condition known as foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis (FHONDA). In this review, we will focus only in the genetics of skin pigmentation in OCA, both in human and mouse, updating our current knowledge on this subject.
Bibliography:Tamio Suzuki and Lluis Montoliu are co‐senior authors.
Almudena Fernández and Masahiro Hayashi are co‐first authors and they contributed equally to this work.
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ISSN:1755-1471
1755-148X
DOI:10.1111/pcmr.12982