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One of the heterogeneous forms of albinism is observed in Hermansky\u2013Pudlak syndrome (HPS) patients. HPS is characterized by albinism and hemorrhagic diathesis due to the absence of dense bodies in platelets.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this report, we describe a case of a pair of Puerto Rican siblings with albinism that were clinically diagnosed with HPS during childhood. Since they did not harbor the founder changes in the <jats:italic>HPS1<\/jats:italic> and <jats:italic>HPS3<\/jats:italic> genes common in Puerto Ricans, as adults they wanted to know the type of albinism they had. We performed exome sequencing, validation by PCR, and cloning of PCR products followed by Sanger sequencing in the family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We discovered no mutations that could explain an HPS diagnosis. Instead, we found the siblings were compound heterozygotes for 4 variants in the Tyrosinase gene: c.\u2010301C&gt;T, c.140G&gt;A (rs61753180; p.G47D), c.575C&gt;A (rs1042602; p.S192Y), and c.1205G&gt;A (rs1126809; p.R402Q). Our results show that the correct diagnosis for the siblings is OCA1B.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our study shows the importance of molecular testing when diagnosing a rare genetic disorder, especially in populations were the disease prevalence is higher.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2493","type":"journal-article","created":{"date-parts":[[2024,7,12]],"date-time":"2024-07-12T10:39:32Z","timestamp":1720780772000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["After an initial Hermansky\u2013Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type <scp>1B<\/scp>: A case report"],"prefix":"10.1002","volume":"12","author":[{"given":"Joseline","family":"Serrano\u2010Gonz\u00e1lez","sequence":"first","affiliation":[{"name":"Deptartment of Biochemistry, Medical Sciences Campus, School of Medicine University of Puerto Rico  San Juan Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Montes\u2010Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Comprehensive Cancer Center University of Puerto Rico  San Juan Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessicca Y.","family":"Renta","sequence":"additional","affiliation":[{"name":"Deptartment of Biochemistry, Medical Sciences Campus, School of Medicine University of Puerto Rico  San Juan Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Rojas","sequence":"additional","affiliation":[{"name":"Deptartment of Biochemistry, Medical Sciences Campus, School of Medicine University of Puerto Rico  San Juan Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6676-1086","authenticated-orcid":false,"given":"Carmen L.","family":"Cadilla","sequence":"additional","affiliation":[{"name":"Deptartment of Biochemistry, Medical Sciences Campus, School of Medicine University of Puerto Rico  San Juan Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,7,12]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102015\u201009\u2010671636"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng576"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.xops.2021.100077"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102012\u201001\u2010404350"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010019\u201051768\u20108"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32539"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0040-1708088"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097\u20102765(00)80170\u20107"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0195\u201092"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010018\u201037272\u20105"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V14.2.162.162"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.07\u20100791"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12253"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0106656"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12688"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1229"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s42003\u2010019\u20100430\u20106"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.05.012"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010022\u201031392\u20103"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol\u20102018\u2010312729"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/499338"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010017\u201004401\u20105"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/1523-1747.ep12477808"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380020102"},{"issue":"1","key":"e_1_2_12_26_1","first-page":"17","article-title":"A frequent tyrosinase gene mutation associated with type I\u2010A (tyrosinase\u2010 negative) oculocutaneous albinism in Puerto Rico","volume":"52","author":"Oetting W. 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