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Our study performed mutation analysis of the G protein-coupled receptor 143 gene (<jats:italic>GPR143<\/jats:italic>) and assessed the clinical characteristics of OA1 in three Chinese families. Three novel mutations, c.333_360+14del42insCTT, c.276G&gt;A (p.W92X), and c.793C&gt;T (p.R265X), were identified in <jats:italic>GPR143<\/jats:italic> by PCR followed by Sanger sequencing in these families. All affected individuals presented with nystagmus, photophobia, poor visual acuity, foveal hypoplasia and varying degrees of hypopigmentation of the fundus. The fundus of female carriers showed pigmented streaks alternating with hypopigmented streaks. These results allowed us to expand the spectrum of mutations in <jats:italic>GPR143<\/jats:italic> and phenotypes associated with ocular albinism.<\/jats:p>","DOI":"10.1038\/srep33713","type":"journal-article","created":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T10:34:31Z","timestamp":1487327671000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism"],"prefix":"10.1038","volume":"7","author":[{"given":"Xuan","family":"Zou","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lizhu","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zixi","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhisheng","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huajin","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruifang","family":"Sui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,2,17]]},"reference":[{"key":"BFsrep33713_CR1","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1136\/bjo.85.9.1098","volume":"85","author":"M Preising","year":"2001","unstructured":"Preising, M., Op de Laak, J. 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