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However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by <jats:italic>the G-protein coupled receptor 143<\/jats:italic> (<jats:italic>GPR143<\/jats:italic>) gene mutations. Mutations in <jats:italic>the FERM domain\u2013containing 7<\/jats:italic> (<jats:italic>FRMD7<\/jats:italic>) gene are responsible for the X-linked congenital idiopathic nystagmus. In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations. After direct sequencing of the <jats:italic>FRMD7<\/jats:italic> and <jats:italic>GPR143<\/jats:italic> genes, five mutations in <jats:italic>GPR143<\/jats:italic> gene were detected in each of the five families, including a novel nonsense mutation of c.333G&gt;A (p.W111X), two novel splicing mutations of c.360+1G&gt;C and c.659-1G&gt;A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25) and a previously reported missense mutation of c.703G&gt;A (p.E235K). Optical coherence tomography (OCT) examination showed foveal hypoplasia in all the affected patients with nystagmus. Our study further expands the <jats:italic>GPR143<\/jats:italic> mutation spectrum and contributes to the study of <jats:italic>GPR143<\/jats:italic> molecular pathogenesis. Molecular diagnosis and optical coherence tomography (OCT) are two useful tools for differential diagnosis.<\/jats:p>","DOI":"10.1038\/srep12031","type":"journal-article","created":{"date-parts":[[2015,7,10]],"date-time":"2015-07-10T09:46:25Z","timestamp":1436521585000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus"],"prefix":"10.1038","volume":"5","author":[{"given":"Ruifang","family":"Han","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaojuan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongjie","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liming","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhongfang","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Ying","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ningdong","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,7,10]]},"reference":[{"key":"BFsrep12031_CR1","first-page":"4","volume":"2","author":"DG Cogan","year":"1967","unstructured":"Cogan, D. 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