{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:30:23Z","timestamp":1790811023625,"version":"4.1.0"},"reference-count":13,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T00:00:00Z","timestamp":1669161600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Albinism is a genetic disorder, present worldwide, caused by mutations in genes affecting melanin production or transport in the skin, hair and eyes. To date, mutations in at least 20 different genes have been identified. Oculo-cutaneous Albinism type IV (OCA4) is the most frequent form in Asia but has been reported in all populations, including Europeans. Little is known about the genotype-phenotype correlation. We identified two main phenotypes via the analysis of 30 OCA4 patients with a molecularly proven diagnosis. The first, found in 20 patients, is clinically indistinguishable from the classical OCA1 phenotype. The genotype-to-phenotype correlation suggests that this phenotype is associated with homozygous or compound heterozygous nonsense or deletion variants with frameshift leading to translation interruption in the SLC45A2 gene. The second phenotype, found in 10 patients, is characterized by very mild hypopigmentation of the hair (light brown or even dark hair) and skin that is similar to the general population. In this group, visual acuity is variable, but it can be subnormal, foveal hypoplasia can be low grade or even normal, and nystagmus may be lacking. These mild to moderate phenotypes are associated with at least one missense mutation in SLC45A2.<\/jats:p>","DOI":"10.3390\/genes13122198","type":"journal-article","created":{"date-parts":[[2022,11,24]],"date-time":"2022-11-24T01:46:56Z","timestamp":1669254416000},"page":"2198","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1281-2009","authenticated-orcid":false,"given":"Ester","family":"Moreno-Artero","sequence":"first","affiliation":[{"name":"Department of Dermatology, and Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Universit\u00e9 Paris Descartes-Paris Cit\u00e9, INSERM U1163, Institut Imagine, APHP, H\u00f4pital Universitaire Necker-Enfants Malades, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4316-916X","authenticated-orcid":false,"given":"Fanny","family":"Morice-Picard","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Reference Centre for Genodermatoses and Rare Skin Diseases, INSERM U1312, Bordeaux University Hospital, 33000 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eulalie","family":"Lasseaux","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Bordeaux University Hospital, 33000 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthieu P.","family":"Robert","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, and Reference Center for Rare Eye Diseases (OPHTARA), Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Universitaire Necker-Enfants Malades, APHP, 75015 Paris, France"},{"name":"Borelli Centre, UMR 9010, CNRS-SSA-ENS Paris Saclay-Universit\u00e9 Paris Cit\u00e9, 91190 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentine","family":"Coste","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Bordeaux University Hospital, 33000 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5788-392X","authenticated-orcid":false,"given":"Vincent","family":"Michaud","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Bordeaux University Hospital, 33000 Bordeaux, France"},{"name":"INSERM U1211, Laboratory for Rare Diseases, Genetics and Metabolism, 33000 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2468-3910","authenticated-orcid":false,"given":"St\u00e9phanie","family":"Leclerc-Mercier","sequence":"additional","affiliation":[{"name":"Department of Pathology, and Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Universit\u00e9 Paris Descartes-Paris Cit\u00e9, APHP, H\u00f4pital Universitaire Necker-Enfants Malades, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3563-5482","authenticated-orcid":false,"given":"Dominique","family":"Bremond-Gignac","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, and Reference Center for Rare Eye Diseases (OPHTARA), Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Universitaire Necker-Enfants Malades, APHP, 75015 Paris, France"},{"name":"INSERM, UMRS 1138, Team 17, From Physiopathology of Ocular Diseases to Clinical Development, Universit\u00e9 Paris Descartes-Paris Cit\u00e9, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2987-2932","authenticated-orcid":false,"given":"Benoit","family":"Arveiler","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Bordeaux University Hospital, 33000 Bordeaux, France"},{"name":"INSERM U1211, Laboratory for Rare Diseases, Genetics and Metabolism, 33000 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smail","family":"Hadj-Rabia","sequence":"additional","affiliation":[{"name":"Department of Dermatology, and Reference Centre for Genodermatoses and Rare Skin Diseases (MAGEC), Universit\u00e9 Paris Descartes-Paris Cit\u00e9, INSERM U1163, Institut Imagine, APHP, H\u00f4pital Universitaire Necker-Enfants Malades, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1016\/j.lpm.2017.05.020","article-title":"Clinical and genetic aspects of albinism","volume":"46","author":"Arveiler","year":"2017","journal-title":"Presse 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Rep."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"11572","DOI":"10.1038\/s41598-021-90896-y","article-title":"Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4","volume":"11","author":"Kruijt","year":"2021","journal-title":"Sci Rep."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/12\/2198\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:25:17Z","timestamp":1760145917000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/12\/2198"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,23]]},"references-count":13,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["genes13122198"],"URL":"https:\/\/doi.org\/10.3390\/genes13122198","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,23]]}}}