{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:11:49Z","timestamp":1753891909725,"version":"3.41.2"},"reference-count":27,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T00:00:00Z","timestamp":1744848000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Oculocutaneous albinism (OCA) is a condition inherited in an autosomal recessive manner, leading to reduced pigmentation in the skin, hair, and eyes. Oculocutaneous albinism type 2 (OCA2) is one of the most common forms of OCA, caused by <jats:italic>OCA2<\/jats:italic> mutations. This case report presents a newborn with suspected OCA. Postnatal examination revealed white skin, golden-colored hair, and reduced visibility of the retinal pigmented epithelium on fundus photography. Genomic DNA was extracted from the peripheral blood of the patient and her parents. Whole Exome Sequencing (WES) was conducted using chip capture-based high-throughput sequencing technology to analyze genomic DNA from the proband and her parents. Genetic variants of his parents were identified using sanger sequencing. A mutation in the <jats:italic>OCA2<\/jats:italic> was identified: NM_000275.2: c.863_886delTGAGCAGGACCTTTGAGGTGA (p.Met288_Leu295del). Subsequently genetic analyses were conducted. This mutation was recognized as a potential disease-causing mutation, validating diagnosis of OCA2. Currently, few reports have been published regarding this mutation site. It represents a new mutation site in <jats:italic>OCA2<\/jats:italic> (NM_000275.2:c.863_886del), contributing to the genetic diversity of the <jats:italic>OCA2<\/jats:italic>.<\/jats:p>","DOI":"10.3389\/fped.2025.1508198","type":"journal-article","created":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T05:24:28Z","timestamp":1744867468000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in the OCA2"],"prefix":"10.3389","volume":"13","author":[{"given":"Lei","family":"Luo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanzhang","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,4,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"147986","DOI":"10.1016\/j.gene.2023.147986","article-title":"Unveiling genetics of non-syndromic albinism using whole exome sequencing: a comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families","volume":"894","author":"Zaman","year":"2024","journal-title":"Gene"},{"key":"B2","doi-asserted-by":"publisher","first-page":"4","DOI":"10.3969\/j.issn.1672-7185.2019.09.004","article-title":"Guidelines for diagnosis and treatment of albinism","volume":"26","year":"2019","journal-title":"Chin Pract J Rural Doctor"},{"key":"B3","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1111\/pcmr.12167","article-title":"Increasing the complexity: new genes and new types of albinism","volume":"27","author":"Montoliu","year":"2014","journal-title":"Pigment Cell Melanoma Res"},{"volume-title":"Albinism","year":"2023","author":"Federico","key":"B4"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jdermsci.2007.12.008","article-title":"Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4","volume":"51","author":"Suzuki","year":"2008","journal-title":"J Dermatol Sci"},{"key":"B6","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1046\/j.1468-3083.2003.00767.x","article-title":"Oculocutaneous albinism","volume":"17","author":"Okulicz","year":"2003","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1016\/j.jdermsci.2011.02.009","article-title":"Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism","volume":"62","author":"Wei","year":"2011","journal-title":"J Dermatol Sci"},{"key":"B8","doi-asserted-by":"publisher","first-page":"1142","DOI":"10.1038\/nature07163","article-title":"Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes","volume":"454","author":"Setty","year":"2008","journal-title":"Nature"},{"key":"B9","doi-asserted-by":"publisher","first-page":"3178","DOI":"10.1091\/mbc.E11-06-0509","article-title":"Differential recognition of a dileucine-based sorting signal by AP-1 and AP-3 reveals a requirement for both BLOC-1 and AP-3 in delivery of OCA2 to melanosomes","volume":"23","author":"Sitaram","year":"2012","journal-title":"Mol Biol Cell"},{"key":"B10","doi-asserted-by":"publisher","first-page":"786","DOI":"10.1038\/nrm2258","article-title":"Melanosomes\u2013dark organelles enlighten endosomal membrane transport","volume":"8","author":"Raposo","year":"2007","journal-title":"Nat Rev Mol Cell Biol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1007\/s12013-013-9697-2","article-title":"Computational screening of disease-associated mutations in OCA2 gene","volume":"68","author":"Kamaraj","year":"2014","journal-title":"Cell Biochem Biophys"},{"key":"B12","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1038\/361072a0","article-title":"A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism","volume":"361","author":"Rinchik","year":"1993","journal-title":"Nature"},{"key":"B13","doi-asserted-by":"publisher","first-page":"BSR20230060","DOI":"10.1042\/BSR20230060","article-title":"Structural insights into pink-eyed dilution protein (Oca2)","volume":"43","author":"Mesdaghi","year":"2023","journal-title":"Biosci Rep"},{"key":"B14","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1016\/0888-7543(95)80220-g","article-title":"Organization and sequence of the human P gene and identification of a new family of transport proteins","volume":"26","author":"Lee","year":"1995","journal-title":"Genomics"},{"key":"B15","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1034\/j.1600-0749.2001.140203.x","article-title":"The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH","volume":"14","author":"Brilliant","year":"2001","journal-title":"Pigment Cell Res"},{"key":"B16","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1186\/s12881-019-0842-7","article-title":"Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations","volume":"20","author":"Yang","year":"2019","journal-title":"BMC Med Genet"},{"key":"B17","doi-asserted-by":"publisher","first-page":"984","DOI":"10.3321\/j.issn:0253-9772.2005.06.023","article-title":"Mutations and polymorphisms of the P gene associated with oculocutaneous albinism type \u2161","volume":"27","author":"Duan","year":"2005","journal-title":"Hereditas"},{"key":"B18","doi-asserted-by":"publisher","first-page":"782","DOI":"10.1086\/318800","article-title":"In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: p-gene mutations identified","volume":"68","author":"Manga","year":"2001","journal-title":"Am J Hum Genet"},{"key":"B19","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1038\/jid.2009.339","article-title":"A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism","volume":"130","author":"Wei","year":"2010","journal-title":"J Invest Dermatol"},{"key":"B20","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1101\/gr.128652.111","article-title":"HERC2 Rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter","volume":"22","author":"Visser","year":"2012","journal-title":"Genome Res"},{"key":"B21","doi-asserted-by":"publisher","first-page":"683","DOI":"10.1007\/s00439-011-1110-x","article-title":"A global view of the OCA2-HERC2 region and pigmentation","volume":"131","author":"Donnelly","year":"2012","journal-title":"Hum Genet"},{"key":"B22","doi-asserted-by":"publisher","first-page":"544","DOI":"10.1111\/j.1755-148X.2009.00606.x","article-title":"Genetics of human iris colour and patterns","volume":"22","author":"Sturm","year":"2009","journal-title":"Pigment Cell Melanoma Res"},{"key":"B23","doi-asserted-by":"publisher","first-page":"104485","DOI":"10.1016\/j.isci.2022.104485","article-title":"Investigating the genetic architecture of eye colour in a Canadian cohort","volume":"25","author":"Lona-Durazo","year":"2022","journal-title":"iScience"},{"key":"B24","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1038\/gim.0b013e31822bead0","article-title":"Prader-Willi syndrome","volume":"14","author":"Cassidy","year":"2012","journal-title":"Genet Med"},{"key":"B25","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1007\/s00018-007-6460-0","article-title":"Molecular epigenetics of Angelman syndrome","volume":"64","author":"Lalande","year":"2007","journal-title":"Cell Mol Life Sci"},{"key":"B26","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1002\/(sici)1096-8628(19970711)71:1%3C57::aid-ajmg11%3E3.0.co;2-u","article-title":"Hypopigmentation in the prader-willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele","volume":"71","author":"Spritz","year":"1997","journal-title":"Am J Med Genet"},{"key":"B27","doi-asserted-by":"publisher","first-page":"392","DOI":"10.1136\/jmg.37.5.392","article-title":"Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome","volume":"37","author":"Saitoh","year":"2000","journal-title":"J Med Genet"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2025.1508198\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T05:24:31Z","timestamp":1744867471000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2025.1508198\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,17]]},"references-count":27,"alternative-id":["10.3389\/fped.2025.1508198"],"URL":"https:\/\/doi.org\/10.3389\/fped.2025.1508198","relation":{},"ISSN":["2296-2360"],"issn-type":[{"type":"electronic","value":"2296-2360"}],"subject":[],"published":{"date-parts":[[2025,4,17]]},"article-number":"1508198"}}