{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T06:02:04Z","timestamp":1775887324211,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2021,5,5]],"date-time":"2021-05-05T00:00:00Z","timestamp":1620172800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Warburg\u2010Micro syndrome (WARBM) is a rare autosomal recessively inherited neuro\u2010ophthalmologic syndrome. Although WARBM shows genetic heterogeneity, the pathogenic variants in <jats:italic>RAB3GAP1<\/jats:italic> were the most common cause of WARBM. In this study, we aimed to evaluate the detailed clinical and dysmorphic features of seven WARBM1 patients and overview the variant spectrum of <jats:italic>RAB3GAP1<\/jats:italic> in comparison with the literature who were referred due to congenital cataracts. A previously reported homozygous variant (c.2187_2188delGAinsCT) was identified in three of these patients, while the other four had three novel variants (c.251_258delAGAA, c.2606+1G&gt;A, and c.2861_2862dupGC). Congenital cataract and corpus callosum hypo\/agenesia are pathognomonic for WARBM, which could be distinguished from other similar syndromes with additional typical dysmorphic facial features. Although there is no known phenotype and genotype correlation in any type of WARBM, <jats:italic>RAB3GAP1<\/jats:italic> gene analysis should be previously requested as the first step of genetic diagnosis in clinically suspicious patients when it is not possible to request a multi\u2010gene panel.<\/jats:p>","DOI":"10.1002\/ajmg.a.62234","type":"journal-article","created":{"date-parts":[[2021,5,6]],"date-time":"2021-05-06T09:59:16Z","timestamp":1620295156000},"page":"2325-2334","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["From cataract to syndrome diagnosis: Revaluation of <scp>Warburg\u2010Micro<\/scp> syndrome <scp>Type<\/scp> 1 patients"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5624-3878","authenticated-orcid":false,"given":"Hatice","family":"Mutlu Albayrak","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Ankara Bilkent City Hospital  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nursel H.","family":"El\u00e7io\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Marmara University  \u0130stanbul Turkey"},{"name":"Faculty of Medicine Eastern Mediterranean University  Mersin Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burcu","family":"Yeter","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Marmara University  \u0130stanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kadri","family":"Karaer","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Pamukkale University  Denizli Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,5,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13825"},{"issue":"4","key":"e_1_2_7_3_1","first-page":"423","article-title":"Phenotypic variability in Micro syndrome: Report of new cases","volume":"18","author":"Abdel\u2010Salam G. 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