{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T16:14:20Z","timestamp":1790957660889,"version":"4.1.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,10,7]],"date-time":"2013-10-07T00:00:00Z","timestamp":1381104000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2014,10]]},"abstract":"Anophthalmia and microphthalmia (AM<\/jats:styled-content>) are the most severe malformations of the eye, corresponding respectively to reduced size or absent ocular globe. Wide genetic heterogeneity has been reported and different genes have been demonstrated to be causative of syndromic and non\u2010syndromic forms of AM<\/jats:styled-content>. We screened seven AM<\/jats:styled-content> genes [GDF6<\/jats:styled-content><\/jats:italic> (growth differentiation factor 6), FOXE3<\/jats:styled-content><\/jats:italic> (forkhead box E3), OTX2<\/jats:styled-content><\/jats:italic> (orthodenticle protein homolog 2), PAX6<\/jats:styled-content><\/jats:italic> (paired box 6), RAX<\/jats:styled-content><\/jats:italic> (retina and anterior neural fold homeobox), SOX2<\/jats:styled-content><\/jats:italic> (SRY sex determining region Y\u2010box 2), and VSX2<\/jats:styled-content><\/jats:italic> (visual system homeobox 2 gene)] in a cohort of 150 patients with isolated or syndromic AM<\/jats:styled-content>. The causative genetic defect was identified in 21% of the patients (32\/150). Point mutations were identified by direct sequencing of these genes in 25 patients (13 in SOX2<\/jats:styled-content><\/jats:italic>, 4 in RAX<\/jats:styled-content><\/jats:italic>, 3 in OTX2<\/jats:styled-content><\/jats:italic>, 2 in FOXE3<\/jats:styled-content><\/jats:italic>, 1 in VSX2<\/jats:styled-content><\/jats:italic>, 1 in PAX6<\/jats:styled-content><\/jats:italic>, and 1 in GDF6<\/jats:styled-content><\/jats:italic>). In addition eight gene deletions (five SOX2<\/jats:styled-content><\/jats:italic>, two OTX2<\/jats:styled-content><\/jats:italic> and one RAX<\/jats:styled-content><\/jats:italic>)<\/jats:styled-content> were identified using a semi\u2010quantitative multiplex polymerase chain reaction (PCR)<\/jats:styled-content> [quantitative multiplex PCR amplification of short fluorescent fragments (QMPSF<\/jats:styled-content>)]. The causative genetic defect was identified in 21% of the patients. This result contributes to our knowledge of the molecular basis of AM<\/jats:styled-content>, and will facilitate accurate genetic counselling.<\/jats:p>","DOI":"10.1111\/cge.12275","type":"journal-article","created":{"date-parts":[[2013,9,11]],"date-time":"2013-09-11T08:25:05Z","timestamp":1378887905000},"page":"326-334","source":"Crossref","is-referenced-by-count":109,"title":["Molecular findings and clinical data in a cohort of 150 patients with anophthalmia\/microphthalmia"],"prefix":"10.1111","volume":"86","author":[{"given":"N.","family":"Chassaing","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Purpan CHU Toulouse Toulouse France"},{"name":"Universit\u00e9 Paul\u2010Sabatier Toulouse III Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Causse","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Purpan CHU Toulouse Toulouse 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