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Detected rare variants were assessed for pathogenicity by <jats:italic>in silico<\/jats:italic> analysis. Segregation of the identified variants was performed in available first degree relatives.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A total of 29 heterozygous mutations evaluated as pathogenic were identified in 42 probands, of these seven were novel. In two probands, only variants of unknown significance were found. 76% of pathogenic mutations observed in 30 (71%) of 42 probands were evaluated to lead to unstable transcripts resulting in haploinsufficiency. Three probands with the following disease\u2010causing mutations c.1230+1G&gt;A, c.1367G&gt;A and c.2965dup were documented to suffer from hearing loss and\/or neurological impairment.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic><jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>1<\/jats:italic> gene screening in patients with bilateral optic atrophy is an important part of clinical evaluation as it may establish correct clinical diagnosis. Our study expands the spectrum of <jats:italic><jats:styled-content style=\"fixed-case\">OPA<\/jats:styled-content>1<\/jats:italic> mutations causing dominant optic atrophy and supports the fact that haploinsufficiency is the most common disease mechanism.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.13285","type":"journal-article","created":{"date-parts":[[2016,11,17]],"date-time":"2016-11-17T11:06:55Z","timestamp":1479380815000},"page":"363-369","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<i><scp>OPA<\/scp>1<\/i> analysis in an international series of probands with bilateral optic atrophy"],"prefix":"10.1111","volume":"95","author":[{"given":"Petra","family":"Liskova","sequence":"first","affiliation":[{"name":"Institute of Inherited Metabolic Disorders First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic"},{"name":"Department of Ophthalmology First 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