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Patients with CFEOM underwent detailed ophthalmic examinations and magnetic resonance imaging (MRI). Panel-based next-generation sequencing was performed to identify pathogenic variants of disease-causing genes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Sixty-two patients with CFEOM were recruited into this study. Thirty-nine patients were diagnosed with CFEOM1 and 23 with CFEOM3. Forty-nine of the 62 patients with CFEOM carried either <jats:italic>KIF21A<\/jats:italic> (41\/49) or <jats:italic>TUBB3<\/jats:italic> variants (8\/49). Six known missense variants in the <jats:italic>KIF21A<\/jats:italic> and <jats:italic>TUBB3<\/jats:italic> genes, and a novel variant (c.3906T\u2009&gt;\u2009A, p.D1302E) in the <jats:italic>KIF21A<\/jats:italic> gene were detected. Most patients with CFEOM1 carrying the <jats:italic>KIF21A<\/jats:italic> mutation displayed isolated CFEOM, whereas patients with CFEOM3 carrying the <jats:italic>TUBB3<\/jats:italic> mutation had a wide range of clinical manifestations, either CFEOM alone or syndromes. Nystagmus was also present in 12 patients with CFEOM. Furthermore, the MRI findings varied, ranging from attenuation of the extraocular muscles to dysgenesis of the cranial nerves and brain structure.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The novel variants identified in this study will further expand the spectrum of pathogenic variants in CFEOM-related genes. However, no phenotype\u2013genotype correlations were established because of the diversity of the clinical characteristics of these patients.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03206-w","type":"journal-article","created":{"date-parts":[[2024,8,15]],"date-time":"2024-08-15T08:01:51Z","timestamp":1723708911000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles"],"prefix":"10.1186","volume":"19","author":[{"given":"Jin","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lijuan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunyu","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Xie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tong","family":"Mo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3786-9490","authenticated-orcid":false,"given":"Ningdong","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,8,15]]},"reference":[{"issue":"6","key":"3206_CR1","doi-asserted-by":"publisher","first-page":"676","DOI":"10.1136\/bjo.82.6.676","volume":"82","author":"AC Reck","year":"1998","unstructured":"Reck AC, Manners R, Hatchwell E. 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