{"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":1790811023442,"version":"4.1.0"},"reference-count":69,"publisher":"Springer Science and Business Media LLC","issue":"1","content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2012,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Oculocutaneous albinism (OCA) is caused by a group of genetically heterogeneous inherited defects that result in the loss of pigmentation in the eyes, skin and hair. Mutations in the <jats:italic>TYR<\/jats:italic>, <jats:italic>OCA2<\/jats:italic>, <jats:italic>TYRP1<\/jats:italic> and <jats:italic>SLC45A2<\/jats:italic> genes have been shown to cause isolated OCA. No comprehensive analysis has been conducted to study the spectrum of <jats:italic>OCA<\/jats:italic> alleles prevailing in Pakistani albino populations.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We enrolled 40 large Pakistani families and screened them for <jats:italic>OCA<\/jats:italic> genes and a candidate gene, <jats:italic>SLC24A5<\/jats:italic>. Protein function effects were evaluated using <jats:italic>in silico<\/jats:italic> prediction algorithms and <jats:italic>ex vivo<\/jats:italic> studies in human melanocytes. The effects of splice-site mutations were determined using an exon-trapping assay.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Screening of the <jats:italic>TYR<\/jats:italic> gene revealed four known (p.Arg299His, p.Pro406Leu, p.Gly419Arg, p.Arg278*) and three novel mutations (p.Pro21Leu, p.Cys35Arg, p.Tyr411His) in ten families. <jats:italic>Ex vivo<\/jats:italic> studies revealed the retention of an EGFP-tagged mutant (p.Pro21Leu, p.Cys35Arg or p.Tyr411His) tyrosinase in the endoplasmic reticulum (ER) at 37\u00b0C, but a significant fraction of p.Cys35Arg and p.Tyr411His left the ER in cells grown at a permissive temperature (31\u00b0C). Three novel (p.Asp486Tyr, p.Leu527Arg, c.1045-15\u2009T\u2009&gt;\u2009G) and two known mutations (p.Pro743Leu, p.Ala787Thr) of <jats:italic>OCA2<\/jats:italic> were found in fourteen families. Exon-trapping assays with a construct containing a novel c.1045-15\u2009T\u2009&gt;\u2009G mutation revealed an error in splicing. No mutation in <jats:italic>TYRP1<\/jats:italic>, <jats:italic>SLC45A2,<\/jats:italic> and <jats:italic>SLC24A5<\/jats:italic> was found in the remaining 16 families. Clinical evaluation of the families segregating either <jats:italic>TYR<\/jats:italic> or <jats:italic>OCA2<\/jats:italic> mutations showed nystagmus, photophobia, and loss of pigmentation in the skin or hair follicles. Most of the affected individuals had grayish-blue colored eyes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>Our results show that ten and fourteen families harbored mutations in the <jats:italic>TYR<\/jats:italic> and <jats:italic>OCA2<\/jats:italic> genes, respectively. Our findings, along with the results of previous studies, indicate that the p.Cys35Arg, p.Arg278* and p.Gly419Arg alleles of <jats:italic>TYR<\/jats:italic> and the p.Asp486Tyr and c.1045-15\u2009T\u2009&gt;\u2009G alleles of <jats:italic>OCA2<\/jats:italic> are the most common causes of OCA in Pakistani families. To the best of our knowledge, this study represents the first documentation of <jats:italic>OCA2<\/jats:italic> alleles in the Pakistani population. A significant proportion of our cohort did not have mutations in known <jats:italic>OCA<\/jats:italic> genes. Overall, our study contributes to the development of genetic testing protocols and genetic counseling for OCA in Pakistani families.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1750-1172-7-44","type":"journal-article","created":{"date-parts":[[2012,6,27]],"date-time":"2012-06-27T13:39:57Z","timestamp":1340804397000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population"],"prefix":"10.1186","volume":"7","author":[{"given":"Thomas J","family":"Jaworek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tasleem","family":"Kausar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon M","family":"Bell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabeela","family":"Tariq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Imran","family":"Maqsood","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Sohail","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhmmmad","family":"Ali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Furhan","family":"Iqbal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shafqat","family":"Rasool","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saima","family":"Riazuddin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rehan S","family":"Shaikh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zubair M","family":"Ahmed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2012,6,26]]},"reference":[{"key":"477_CR1","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1002\/ajmg.c.30036","volume":"131C","author":"Y Tomita","year":"2004","unstructured":"Tomita Y, Suzuki T: Genetics of pigmentary disorders. 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