{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T06:03:05Z","timestamp":1789020185209,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,3,2]],"date-time":"2020-03-02T00:00:00Z","timestamp":1583107200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001843","name":"Science and Engineering Research Board","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001843","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oculocutaneous albinism (OCA) is a group of congenital autosomal recessive disorders with seven known subtypes (OCA1\u2013OCA7) characterized by loss or absence of pigmentation in the skin, hair, and eyes. OCA1, caused by pathogenic variations in the tyrosinase (<jats:italic>TYR<\/jats:italic>) gene, has been documented to be the most prevalent subtype across the world including India. In the present study, we recruited 53 OCA\u2010affected individuals from 45 unrelated families belonging to 20 different marriage groups\/ethnicities of 15 different districts of West Bengal. We took a targeted sequencing\u2010based approach to find the causal variations in the <jats:italic>TYR<\/jats:italic> gene. We report here identification of two novel potentially pathogenic variations [NM_000372.4:c.614C&gt;T, NP_000363.1:p.(Pro205Leu), and NM_000372.4:c.1036+1=\/G&gt;T], one novel synonymous <jats:italic>TYR<\/jats:italic> variant [NM_000372.4:c.204=\/A&gt;G, NP_000363.1:p.(Gln68=)], two pathogenic variations documented for the first time in Indian OCA cases [NM_000372.4:c.1147G&gt;A, NP_000363.1:p.(Asp383Asn), and NM_000372.4:c.585G&gt;A, NP_000363.1:p.(Trp195*)], along with nine previously reported pathogenic variants in 36 out of 53 (\u223c68%) patients recruited. We report common haplotype backgrounds for the two most prevalent variations [NM_000372.4:c.124G&gt;A, NM_000372.4:c.832C&gt;T] in cases belonging to different marriage\/ethnic groups, suggesting a possible founder effect. To our knowledge, this is the most comprehensive genetic study on OCA1 from India, firmly establishing OCA1 as the commonest form of albinism in this part of the world.<\/jats:p>","DOI":"10.1111\/ahg.12376","type":"journal-article","created":{"date-parts":[[2020,3,2]],"date-time":"2020-03-02T09:53:26Z","timestamp":1583142806000},"page":"303-312","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Mapping the <i>TYR<\/i> gene reveals novel and previously reported variants in Eastern Indian patients highlighting preponderance of the same changes in multiple unrelated ethnicities"],"prefix":"10.1111","volume":"84","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8327-0115","authenticated-orcid":false,"given":"Kausik","family":"Ganguly","sequence":"first","affiliation":[{"name":"Department of Genetics University of Calcutta  Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tithi","family":"Dutta","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Calcutta  Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arpan","family":"Saha","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Calcutta  Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devroop","family":"Sarkar","sequence":"additional","affiliation":[{"name":"Joypur Block Primary Health Centre  Howrah West Bengal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asim","family":"Sil","sequence":"additional","affiliation":[{"name":"Vivekananda Mission Ashram Netra Niramay Niketan  Purba Medinipur West Bengal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9989-1760","authenticated-orcid":false,"given":"Kunal","family":"Ray","sequence":"additional","affiliation":[{"name":"ATGC Diagnostics  Kolkata West Bengal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4031-1810","authenticated-orcid":false,"given":"Mainak","family":"Sengupta","sequence":"additional","affiliation":[{"name":"Department of Genetics University of Calcutta  Kolkata India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,2]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21047"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki375"},{"key":"e_1_2_9_5_1","first-page":"531","article-title":"Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene","volume":"11","author":"Chaki M.","year":"2005","journal-title":"Molecular Vision"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2006.00247.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2010.274"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"issue":"1","key":"e_1_2_9_9_1","first-page":"003","article-title":"C10ORF11 is unlikely to have a major contribution towards OCA pathogenesis in Southern and Eastern India","volume":"1","author":"Ganguly K.","year":"2017","journal-title":"Human Biology & Health Education"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1475-1313.2000.00504.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-018-37272-5"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.07-0791"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0022-202X.2005.23815.x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0151760"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.09.012"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.14977"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2007.01.001"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-013-0250-2"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22225"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/msb.2011.75"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.2144\/00286ir01"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-002-8648-3"},{"issue":"2","key":"e_1_2_9_23_1","first-page":"103","article-title":"A polymorphism of the human tyrosinase gene is associated with temperature\u2010sensitive enzymatic activity","volume":"1","author":"Tripathi R. 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