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The <jats:italic><jats:styled-content style=\"fixed-case\">CHM<\/jats:styled-content><\/jats:italic> gene encodes Rab escort protein 1 (<jats:styled-content style=\"fixed-case\">REP<\/jats:styled-content>\u20101). In this work, we reviewed the phenotypes and genotypes of affected males with the purpose of understanding the functional effects of <jats:italic><jats:styled-content style=\"fixed-case\">CHM<\/jats:styled-content><\/jats:italic> mutations and their relationship with the phenotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A retrospective review of 128 affected males was performed analyzing the onset of symptoms, visual acuity, and visual fields with respect to their mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">CHM<\/jats:styled-content><\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In rank order, reflecting data from this report, the most common mutations found in the <jats:italic><jats:styled-content style=\"fixed-case\">CHM<\/jats:styled-content><\/jats:italic> gene were nonsense mutations (41%), exon deletions (37%), and splice sites (14%) associated with a loss of functional protein. In the pool of 106 <jats:styled-content style=\"fixed-case\">CHM<\/jats:styled-content> mutations, we discovered four novel missense mutations (c.238C&gt;T; p.L80F, c.819G&gt;T; p.Q273H, c.1327A&gt;G; p.M443V, and c.1370C&gt;T; p.L457P) predicted to be severe changes affecting protein stability and folding with the effect similar to that of other types of mutations. No significant genotype\u2013phenotype correlation was found with respect to the onset of nyctalopia, the onset of other visual symptoms, visual acuity, or width of visual fields.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>There is no evidence to support exclusion of <jats:styled-content style=\"fixed-case\">CHM<\/jats:styled-content> patients from clinical trials based on their genotypes or any potential genotype\u2013phenotype correlations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.208","type":"journal-article","created":{"date-parts":[[2016,2,29]],"date-time":"2016-02-29T02:00:09Z","timestamp":1456711209000},"page":"344-358","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":52,"title":["Analysis of a large choroideremia dataset does not suggest a preference for inclusion of certain genotypes in future trials of gene therapy"],"prefix":"10.1002","volume":"4","author":[{"given":"Paul R.","family":"Freund","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences University of Alberta Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri V.","family":"Sergeev","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch National Eye Institute National Institutes of Health Bethesda Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian M.","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences University of Alberta Edmonton Alberta Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,2,28]]},"reference":[{"issue":"1","key":"e_1_2_7_2_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s10633-011-9296-8","volume":"124","author":"Abstracts of the 50th ISCEV (International Society for Clinical Electrophysiology of Vision) International Symposium, June 3\u20137, 2012, Valencia, Spain","year":"2012","journal-title":"Doc. 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