{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T13:58:40Z","timestamp":1781877520045,"version":"3.54.5"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T00:00:00Z","timestamp":1461283200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"French Ministry of Health","award":["PHRC 09 109 01"],"award-info":[{"award-number":["PHRC 09 109 01"]}]},{"name":"Fondation Maladies Rare"},{"name":"Retina France patient association"},{"name":"VICTA (Visually Impaired Children Taking Action)"},{"name":"MACS (Microphthalmia, Anophthalmia Children's Society)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Anophthalmia and microphthalmia are the most severe malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball respectively. More than 20 genes have been shown to be mutated in patients with syndromic and non\u2010syndromic forms of anophthalmia\u2013microphthalmia. In a recent study combining autozygome and exome analysis, a homozygous loss of function mutation in <jats:italic>TENM3<\/jats:italic> (previously named <jats:italic>ODZ3<\/jats:italic>) was reported in two siblings with isolated bilateral colobomatous microphthalmia from a consanguineous Saudi family. Herein, we report a third patient (not related to the previously reported family) with bilateral colobomatous microphthalmia and developmental delay in whom genetic studies identified a homozygous <jats:italic>TENM3<\/jats:italic> splicing mutation c.2968\u20102A&gt;T (p.Val990Cysfs*13). This report supports the association of <jats:italic>TENM3<\/jats:italic> mutations with colobomatous microphthalmia and expands the phenotypic spectrum associated with mutations in this gene. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37667","type":"journal-article","created":{"date-parts":[[2016,4,22]],"date-time":"2016-04-22T15:24:44Z","timestamp":1461338684000},"page":"1895-1898","source":"Crossref","is-referenced-by-count":35,"title":["Confirmation of <i>TENM3<\/i> involvement in autosomal recessive colobomatous microphthalmia"],"prefix":"10.1002","volume":"170","author":[{"given":"Nicolas","family":"Chassaing","sequence":"first","affiliation":[{"name":"CHU Toulouse Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Purpan Toulouse France"},{"name":"UDEAR Universit\u00e9 de Toulouse, Inserm, UPS, CNRS Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicola","family":"Ragge","sequence":"additional","affiliation":[{"name":"Birmingham Women's Hospital Clinical Genetics Unit Birmingham UK"},{"name":"School of Life Sciences Oxford Brookes University Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Plaisanci\u00e9","sequence":"additional","affiliation":[{"name":"CHU Toulouse Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Purpan Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oliver","family":"Patat","sequence":"additional","affiliation":[{"name":"CHU Toulouse Service de G\u00e9n\u00e9tique M\u00e9dicale, H\u00f4pital Purpan Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Genevi\u00e8ve","sequence":"additional","affiliation":[{"name":"CHRU Montpellier Service de G\u00e9n\u00e9tique M\u00e9dicale Montpellier 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