{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T00:53:30Z","timestamp":1776128010850,"version":"3.50.1"},"reference-count":21,"publisher":"BMJ","issue":"4","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open"],"accepted":{"date-parts":[[2016,3,9]]},"published-print":{"date-parts":[[2016,4]]},"abstract":"<jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      Infantile nystagmus (IN) is a genetically heterogeneous condition characterised by involuntary rhythmic oscillations of the eyes accompanied by different degrees of vision impairment. Two genes have been identified as mainly causing IN:\n                      <jats:italic>FRMD7<\/jats:italic>\n                      and\n                      <jats:italic>GPR143<\/jats:italic>\n                      . The aim of our study was to identify the genetic basis of both sporadic IN and X-linked IN.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Prospective analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>\n                      Twenty Chinese patients, including 15 sporadic IN cases and 5 from X-linked IN families, were recruited and underwent molecular genetic analysis. We first performed PCR-based DNA sequencing of the entire coding region and the splice junctions of the\n                      <jats:italic>FRMD7<\/jats:italic>\n                      and\n                      <jats:italic>GPR143<\/jats:italic>\n                      genes in participants. Mutational analysis and co-segregation confirmation were then performed.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Setting<\/jats:title>\n                    <jats:p>All clinical examinations and genetic experiments were performed in the Eye Hospital of Wenzhou Medical University.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Two mutations in the\n                      <jats:italic>FRMD7<\/jats:italic>\n                      gene, including one novel nonsense mutation (c.1090C&gt;T, p.Q364X) and one reported missense mutation (c.781C&gt;G, p.R261G), were identified in two of the five (40%) X-linked IN families. However, none of putative mutations were identified in\n                      <jats:italic>FRMD7<\/jats:italic>\n                      or\n                      <jats:italic>GPR143<\/jats:italic>\n                      in any of the sporadic cases.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      The results suggest that mutations in\n                      <jats:italic>FRMD7<\/jats:italic>\n                      appeared to be the major genetic cause of X-linked IN, but not of sporadic IN. Our findings provide further insights into\n                      <jats:italic>FRMD7<\/jats:italic>\n                      mutations, which could be helpful for future genetic diagnosis and genetic counselling of Chinese patients with nystagmus.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjopen-2015-010649","type":"journal-article","created":{"date-parts":[[2016,4,1]],"date-time":"2016-04-01T20:51:54Z","timestamp":1459543914000},"page":"e010649","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":11,"title":["Molecular genetic analysis of patients with sporadic and X-linked infantile nystagmus"],"prefix":"10.1136","volume":"6","author":[{"given":"Hui","family":"Zhao","sequence":"first","affiliation":[{"name":"Wenzhou People's Hospital, The Third Clinical Institute Affiliated to Wenzhou Medical University, Wenzhou Medical University, Wenzhou, 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