{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,11]],"date-time":"2026-08-11T13:04:56Z","timestamp":1786453496025,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,10,27]],"date-time":"2020-10-27T00:00:00Z","timestamp":1603756800000},"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":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Anophthalmia and microphthalmia (A\/M) represent severe developmental ocular malformations, corresponding, respectively, to absent eyeball or reduced size of the eye. Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome. Genetic heterogeneity has been demonstrated, and many genes have been reported to be associated with A\/M. The advances in high\u2010throughput sequencing have proven highly effective in defining the molecular basis of A\/M. Nevertheless, there are still many patients with unsolved genetic background of the disease, who pose a significant challenge in the molecular diagnostics of A\/M. Here we describe a family, with three males affected with the non\u2010syndromic A\/M. Whole exome\u2010sequencing performed in Patient 1, revealed the presence of a novel probably pathogenic variant c.734A&gt;G, (p.[Tyr245Cys]) in the <jats:italic>PORCN<\/jats:italic> gene. Pedigree analysis and segregation of the identified variant in the family confirmed the X\u2010linked recessive pattern of inheritance. This is the first report of X\u2010linked recessive non\u2010syndromic A\/M. Until now, pathogenic variants in the <jats:italic>PORCN<\/jats:italic> gene have been identified in the patients with Goltz syndrome, but they were inherited in X\u2010linked dominant mode. The ocular phenotype is the only finding observed in the patients, which allows to exclude the diagnosis of Goltz syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61938","type":"journal-article","created":{"date-parts":[[2020,10,28]],"date-time":"2020-10-28T07:44:41Z","timestamp":1603871081000},"page":"250-255","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Non\u2010syndromic anophthalmia\/microphthalmia can be caused by a <scp><i>PORCN<\/i><\/scp> variant inherited in X\u2010linked recessive manner"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9473-2733","authenticated-orcid":false,"given":"Anna","family":"Wawrocka","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joanna","family":"Walczak\u2010Sztulpa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Pawlak","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Poznan University of Medical Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Gotz\u2010Wieckowska","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Poznan University of Medical Sciences  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maciej R.","family":"Krawczynski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Poznan University of Medical Sciences  Poznan Poland"},{"name":"Centers for Medical Genetics GENESIS  Poznan Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,10,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajpath.2014.09.002"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICU.0b013e328349b004"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-10-137"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31473"},{"key":"e_1_2_8_6_1","unstructured":"Bostwick B. 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