{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:28:12Z","timestamp":1740126492672,"version":"3.37.3"},"reference-count":41,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T00:00:00Z","timestamp":1497484800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","award":["169352"],"award-info":[{"award-number":["169352"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Exper Ophthalmology"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Importance<\/jats:title><jats:p>The importance of the study was to describe the clinical characteristics and mutational analysis of Mexican patients with aniridia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Background<\/jats:title><jats:p>Aniridia is a panocular hereditary eye disease caused by mutations in the <jats:italic>PAX6<\/jats:italic> transcription factor. Mutation detection rate is highly variable ranging from 30% to 90% in different populations. Very few studies have been published about the <jats:italic>PAX6<\/jats:italic> mutational analysis in aniridia patients from Mexico. In order to establish a more representative <jats:italic>PAX6<\/jats:italic> mutational frequency in the country, a cohort of 22 Mexican unrelated aniridia probands were analysed in this study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>Case series.<\/jats:p><\/jats:sec><jats:sec><jats:title>Participants<\/jats:title><jats:p>A total of 22 Mexican probands with bilateral isolated aniridia and their available relatives were included.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Sanger sequencing was used for the mutational analysis of all coding exons and flanking intronic regions of <jats:italic>PAX6<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Main Outcome Measures<\/jats:title><jats:p>Clinical characteristics and results of <jats:italic>PAX6<\/jats:italic> mutational analysis in probands with aniridia and available family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Molecular analysis of <jats:italic>PAX6<\/jats:italic> in 22 index cases with aniridia allowed the identification of a total of 16 different mutations. Seven of these pathogenic variants are novel, including c.183C&gt;G, p.(Y61*); c.718delC, p.(R240Efs*3); c.1149_1152delTCAG, p.(P385Wfs*139); c.257_266delAAATAGCCCA, p.(K86Sfs*35); c.836_843dupGCAACACA p.(P282Afs*86); c.1032+2_1032+3insT; and c.141+2T&gt;A. Inter and intrafamilial phenotypic heterogeneity was found.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions and Relevance<\/jats:title><jats:p>The mutational diagnostic rate in this series was 77%, which is comparable with reports from other populations. Importantly, no founder mutations were identified in this case series. Our results add 7 novel <jats:italic>PAX6<\/jats:italic> pathogenic variants to the aniridia\u2010related mutational spectrum and reveal considerable <jats:italic>PAX6<\/jats:italic> allelic heterogeneity in this population.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ceo.12982","type":"journal-article","created":{"date-parts":[[2017,5,10]],"date-time":"2017-05-10T00:02:52Z","timestamp":1494374572000},"page":"875-883","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp><i>PAX6<\/i><\/scp> allelic heterogeneity in <scp>Mexican<\/scp> congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants"],"prefix":"10.1111","volume":"45","author":[{"given":"Sof\u00eda","family":"P\u00e9rez\u2010Sol\u00f3rzano","sequence":"first","affiliation":[{"name":"Genetics Department Institute of Ophthalmology \u2018Conde de Valenciana\u2019  Mexico City 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