{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T09:33:19Z","timestamp":1777282399150,"version":"3.51.4"},"reference-count":30,"publisher":"Walter de Gruyter GmbH","issue":"3","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Albinism is a rare genetic condition characterized by hypopigmentation of the skin, hair, and eyes, as well as visual impairments. Oculocutaneous albinism type 2 (\n                      <jats:italic>OCA2<\/jats:italic>\n                      ) is commonly associated with variants in the\n                      <jats:italic>OCA2<\/jats:italic>\n                      gene, which encodes a protein critical for melanosomal pH regulation and melanin biosynthesis. Exome sequencing, validated by Sanger sequencing, was employed to investigate the genetic basis of albinism in a consanguineous Iranian family. Bioinformatics analyses and structural modeling were conducted to assess the pathogenicity and impact of the detected variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 27-year-old male from a consanguineous Iranian family presented with features of oculocutaneous albinism, including white hair, blue eyes, strabismus, sun-sensitive skin, reduced visual acuity, and significant photophobia, resulting in functional limitations in bright environments. Genetic analysis identified a novel homozygous missense variant in the\n                      <jats:italic>OCA2<\/jats:italic>\n                      gene, NM_000275.3:c.1274T&gt;G (p.Met425Arg), located in exon 13. The genomic coordinates of the variant are chr15:g.27985154A&gt;C (GRCh38\/hg38). In silico tools classified the variant as likely pathogenic based on its evolutionary conservation, absence in population databases, and structural modeling predictions. Segregation analysis confirmed autosomal recessive inheritance, with both parents being heterozygous carriers.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The identified\n                      <jats:italic>OCA2<\/jats:italic>\n                      variant, c.1274T&gt;G; p.Met425Arg, disrupts protein function, impairing melanosomal activity and melanin biosynthesis. This study underscores the importance of genetic analysis in characterizing\n                      <jats:italic>OCA2<\/jats:italic>\n                      variants and highlights the need for further exploration of molecular mechanisms and phenotypic variability in\n                      <jats:italic>OCA2<\/jats:italic>\n                      -related albinism to improve diagnosis and counseling.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.2478\/abm-2025-0019","type":"journal-article","created":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T20:57:50Z","timestamp":1753736270000},"page":"154-163","source":"Crossref","is-referenced-by-count":0,"title":["Oculocutaneous albinism in a patient with an\n                    <i>OCA2<\/i>\n                    variant: molecular and clinical insights"],"prefix":"10.2478","volume":"19","author":[{"given":"Mostafa","family":"Neissi","sequence":"first","affiliation":[{"name":"Department of Genetics, Khuzestan Science and Research Branch , Islamic Azad University , Ahvaz , Iran"},{"name":"Noor-Gene Genetic Laboratory , Ahvaz , Iran"},{"name":"Department of Genetics, Ahvaz Branch , Islamic Azad University , Ahvaz , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sahar Kareem","family":"Al-Mozani","sequence":"additional","affiliation":[{"name":"Department of Biology , University of Misan , Misan , Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayoob Radhi","family":"Al-Zaalan","sequence":"additional","affiliation":[{"name":"Department of Medical Lab Technology, College of Health and Medical Technology , Southern Technical University , Basrah , Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samaneh","family":"Sanavi Shiri","sequence":"additional","affiliation":[{"name":"Amiralmomenin Hospital , Gerash , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motahareh","family":"Sheikh-Hosseini","sequence":"additional","affiliation":[{"name":"Noor-Gene Genetic Laboratory , Ahvaz , Iran"},{"name":"Pediatric Cell and Gene Therapy Research Center , Tehran University of Medical Sciences , Tehran , Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adnan Issa","family":"Al-Badran","sequence":"additional","affiliation":[{"name":"Department of Biology, College of Science , University of Basrah , Basrah , Iraq"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaheh","family":"Nekouei","sequence":"additional","affiliation":[{"name":"Department of Biomedical and Clinical Science , Link\u00f6ping University , University Hospital, Campus US , Link\u00f6ping , Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2025,6,30]]},"reference":[{"key":"2026042708233076967_j_abm-2025-0019_ref_001","doi-asserted-by":"crossref","unstructured":"Gr\u00f8nskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007; 2:43. doi: 10.1186\/1750-1172-2-43","DOI":"10.1186\/1750-1172-2-43"},{"key":"2026042708233076967_j_abm-2025-0019_ref_002","doi-asserted-by":"crossref","unstructured":"Witkop CJ Jr. Albinism. Clin Dermatol. 1989; 7:80\u201391.","DOI":"10.1016\/0738-081X(89)90059-X"},{"key":"2026042708233076967_j_abm-2025-0019_ref_003","doi-asserted-by":"crossref","unstructured":"Zaman Q, Khan J, Ahmad M, Khan H, Chaudhary HT, Rehman G, et al. Unveiling genetics of non-syndromic albinism using whole exome sequencing: a comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families. Gene. 2024; 894:147986. doi: 10.1016\/j.gene.2023.147986","DOI":"10.1016\/j.gene.2023.147986"},{"key":"2026042708233076967_j_abm-2025-0019_ref_004","doi-asserted-by":"crossref","unstructured":"Wei AH, Zang DJ, Zhang Z, Liu XZ, He X, Yang L, et al. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013; 133:1834\u201340.","DOI":"10.1038\/jid.2013.49"},{"key":"2026042708233076967_j_abm-2025-0019_ref_005","doi-asserted-by":"crossref","unstructured":"Bjelo\u0161 M, \u0106uri\u0107 A, Bu\u0161i\u0107 M, Rak B, Kuzmanovi\u0107 Elabjer B. Genotype-phenotype correlation model for the spectrum of TYR-associated albinism. Diagnostics. 2024; 14:1583. doi: 10.3390\/diagnostics14151583","DOI":"10.3390\/diagnostics14151583"},{"key":"2026042708233076967_j_abm-2025-0019_ref_006","doi-asserted-by":"crossref","unstructured":"Oetting WS, King RA. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat. 1999; 13:99\u2013115.","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C"},{"key":"2026042708233076967_j_abm-2025-0019_ref_007","doi-asserted-by":"crossref","unstructured":"Li Y, Xu Z, Li H, Xiong Y, Zuo B. Differential transcriptional analysis between red and white skeletal muscle of Chinese Meishan pigs. Int J Biol Sci. 2010; 6:350\u201360.","DOI":"10.7150\/ijbs.6.350"},{"key":"2026042708233076967_j_abm-2025-0019_ref_008","doi-asserted-by":"crossref","unstructured":"Colman MA, Stevens G, Ramsay M, Kwon B, Jenkins T. Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism. Hum Genet. 1993; 90:556\u201360.","DOI":"10.1007\/BF00217458"},{"key":"2026042708233076967_j_abm-2025-0019_ref_009","doi-asserted-by":"crossref","unstructured":"Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, et al. The microphthalmia transcription factor (MITF) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. Mol Cell Biol. 2004; 24:6550\u20139.","DOI":"10.1128\/MCB.24.15.6550-6559.2004"},{"key":"2026042708233076967_j_abm-2025-0019_ref_010","doi-asserted-by":"crossref","unstructured":"Neissi M, Al-Badran AI, Mohammadi-Asl M, Al-Badran RA, Sheikh-Hosseini M, Roghani M, et al. Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant. J Rare Dis. 2024; 3:19. doi: 10.1007\/s44162-024-00043-0","DOI":"10.1007\/s44162-024-00043-0"},{"key":"2026042708233076967_j_abm-2025-0019_ref_011","doi-asserted-by":"crossref","unstructured":"Neissi M, Sheikh-Hosseini M, Mohammadi-Asl M, Al-Badran AI, Roghani M, Mohammadi-Asl J, et al. Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9. Clin Case Rep. 2024; 12:e9506. doi: 10.1002\/ccr3.9506","DOI":"10.1002\/ccr3.9506"},{"key":"2026042708233076967_j_abm-2025-0019_ref_012","unstructured":"Neissi M, Mohammadi-Asl J, Mohammadi-Asl M, Roghani M, Sheikh-Hosseini M, Issa Al-Badran A. Usher syndrome type 2 in an Iranian family: a novel founder variation in the USH2A gene. Cell J. 2024; 26:392\u20137."},{"key":"2026042708233076967_j_abm-2025-0019_ref_013","doi-asserted-by":"crossref","unstructured":"Neissi M, Sheikh-Hosseini M, Mohammadi-Asl J. Retinitis pigmentosa-1 due to an RP1 mutation in a consanguineous Iranian family: report of a novel mutation. Clin Case Rep. 2024; 12:e8666. doi: 10.1002\/ccr3.8666","DOI":"10.1002\/ccr3.8666"},{"key":"2026042708233076967_j_abm-2025-0019_ref_014","doi-asserted-by":"crossref","unstructured":"Aledo JC. Methionine in proteins: the Cinderella of the proteinogenic amino acids. Protein Sci. 2019; 28:1785\u201396.","DOI":"10.1002\/pro.3698"},{"key":"2026042708233076967_j_abm-2025-0019_ref_015","doi-asserted-by":"crossref","unstructured":"Harms MJ, Schlessman JL, Sue GR, Garc\u00eda-Moreno B. Arginine residues at internal positions in a protein are always charged. Proc Natl Acad Sci U S A. 2011; 108:18954\u20139.","DOI":"10.1073\/pnas.1104808108"},{"key":"2026042708233076967_j_abm-2025-0019_ref_016","doi-asserted-by":"crossref","unstructured":"Cai Y, Bagyinszky E, An SSA, Kim SY. In silico modeling of pathogenic or possibly pathogenic point mutations in PSEN2. Mol Cell Toxicol. 2016; 12:453\u201364.","DOI":"10.1007\/s13273-016-0050-x"},{"key":"2026042708233076967_j_abm-2025-0019_ref_017","doi-asserted-by":"crossref","unstructured":"Le L, Sir\u00e9s-Campos J, Raposo G, Delevoye C, Marks MS. Melanosome biogenesis in the pigmentation of mammalian skin. Integr Comp Biol. 2021; 61:1517\u201345.","DOI":"10.1093\/icb\/icab078"},{"key":"2026042708233076967_j_abm-2025-0019_ref_018","doi-asserted-by":"crossref","unstructured":"Mar\u00e7on CR, Maia M. Albinism: epidemiology, genetics, cutaneous characterization, psychosocial factors. An Bras Dermatol. 2019; 94:503\u201320.","DOI":"10.1016\/j.abd.2019.09.023"},{"key":"2026042708233076967_j_abm-2025-0019_ref_019","doi-asserted-by":"crossref","unstructured":"Neveu MM, Padhy SK, Ramamurthy S, Takkar B, Jalali S, Cp D, et al. Ophthalmological manifestations of oculocutaneous and ocular albinism: current perspectives. Clin Ophthalmol. 2022; 16:1569\u201387.","DOI":"10.2147\/OPTH.S329282"},{"key":"2026042708233076967_j_abm-2025-0019_ref_020","doi-asserted-by":"crossref","unstructured":"Arshad MW, Harlalka GV, Lin S, D\u2019Atri I, Mehmood S, Shakil M, et al. Mutations in TYR and OCA2 associated with oculocutaneous albinism in Pakistani families. Meta Gene. 2018; 17:48\u201355.","DOI":"10.1016\/j.mgene.2018.03.007"},{"key":"2026042708233076967_j_abm-2025-0019_ref_021","doi-asserted-by":"crossref","unstructured":"Wang Y, Wang Z, Chen M, Fan N, Yang J, Liu L, et al. Mutational analysis of the TYR and OCA2 genes in four Chinese families with oculocutaneous albinism. PLoS One. 2015; 10:e0125651. doi: 10.1371\/journal.pone.0125651","DOI":"10.1371\/journal.pone.0125651"},{"key":"2026042708233076967_j_abm-2025-0019_ref_022","doi-asserted-by":"crossref","unstructured":"Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994; 330:529\u201334.","DOI":"10.1056\/NEJM199402243300803"},{"key":"2026042708233076967_j_abm-2025-0019_ref_023","doi-asserted-by":"crossref","unstructured":"Mondal M, Sengupta M, Samanta S, Sil A, Ray K. Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings. Gene. 2012; 511:470\u20134.","DOI":"10.1016\/j.gene.2012.09.012"},{"key":"2026042708233076967_j_abm-2025-0019_ref_024","doi-asserted-by":"crossref","unstructured":"Lee SY, Lee EJ, Byun JC, Jang KM, Kim SY, Hwang SK. A new type of oculocutaneous albinism with a novel OCA2 mutation. Yeungnam Univ J Med. 2021; 38:160\u20134.","DOI":"10.12701\/yujm.2020.00339"},{"key":"2026042708233076967_j_abm-2025-0019_ref_025","doi-asserted-by":"crossref","unstructured":"Chen X, Feng D, Schwarzschild MA, Gao X. Red hair, MC1R variants, and risk for Parkinson\u2019s disease \u2013 a meta-analysis. Ann Clin Transl Neurol. 2017; 4:212\u20136.","DOI":"10.1002\/acn3.381"},{"key":"2026042708233076967_j_abm-2025-0019_ref_026","doi-asserted-by":"crossref","unstructured":"Caini S, Gandini S, Botta F, Tagliabue E, Raimondi S, Nagore E, et al. MC1R variants and cutaneous melanoma risk according to histological type, body site, and Breslow thickness: a pooled analysis from the M-SKIP project. Melanoma Res. 2020; 30:500\u201310.","DOI":"10.1097\/CMR.0000000000000668"},{"key":"2026042708233076967_j_abm-2025-0019_ref_027","doi-asserted-by":"crossref","unstructured":"Ayala GD, Linderman RE, Valenzuela RK, Woertz EN, Brilliant M, Tarima S, et al. Assessing foveal structure in individuals with TYR R402Q and S192Y hypomorphic alleles. Ophthalmol Sci. 2021; 1:100077. doi: 10.1016\/j.xops.2021.100077","DOI":"10.1016\/j.xops.2021.100077"},{"key":"2026042708233076967_j_abm-2025-0019_ref_028","doi-asserted-by":"crossref","unstructured":"Fracasso NCA, de Andrade ES, Wiezel CEV, Andrade CCF, Zan\u00e3o LR, da Silva MS, et al. Haplotypes from the SLC45A2 gene are associated with the presence of freckles and eye, hair and skin pigmentation in Brazil. Leg Med (Tokyo). 2017; 25:43\u201351.","DOI":"10.1016\/j.legalmed.2016.12.013"},{"key":"2026042708233076967_j_abm-2025-0019_ref_029","doi-asserted-by":"crossref","unstructured":"Branicki W, Brudnik U, Draus-Barini J, Kupiec T, Wojas-Pelc A. Association of the SLC45A2 gene with physiological human hair colour variation. J Hum Genet. 2008; 53:966\u201371.","DOI":"10.1007\/s10038-008-0338-3"},{"key":"2026042708233076967_j_abm-2025-0019_ref_030","doi-asserted-by":"crossref","unstructured":"Rimoldi V, Straniero L, Asselta R, Mauri L, Manfredini E, Penco S, et al. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II. Gene. 2014; 537:79\u201384.","DOI":"10.1016\/j.gene.2013.11.102"}],"container-title":["Asian Biomedicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/abm-2025-0019","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T08:36:42Z","timestamp":1777279002000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/abm-2025-0019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,1]]},"references-count":30,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2025,6,30]]},"published-print":{"date-parts":[[2025,6,1]]}},"alternative-id":["10.2478\/abm-2025-0019"],"URL":"https:\/\/doi.org\/10.2478\/abm-2025-0019","relation":{},"ISSN":["1875-855X"],"issn-type":[{"value":"1875-855X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,1]]}}}