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By exome sequencing, we identified the recurrent <jats:italic>BCOR<\/jats:italic> mutation p.Pro85Leu in two brothers and their unaffected mother. While the older brother's phenotype completely fits the described phenotypic spectrum of X\u2010linked recessive <jats:italic>BCOR<\/jats:italic>\u2010associated Lenz microphthalmia syndrome, the younger brother showed developmental delay, microcephaly, and skeletal anomalies, but not the key feature of microphthalmia. In contrast to the previously published families, our findings demonstrate a large variability of <jats:italic>BCOR<\/jats:italic>\u2010associated, syndromic phenotypes, indicating incomplete penetrance of p.Pro85Leu with regards to microphthalmia in males.<\/jats:p>","DOI":"10.1002\/ajmg.a.40640","type":"journal-article","created":{"date-parts":[[2018,11,19]],"date-time":"2018-11-19T05:38:44Z","timestamp":1542605924000},"page":"2872-2876","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Microphthalmia is not a mandatory finding in X\u2010linked recessive syndromic microphthalmia caused by the recurrent <i>BCOR<\/i> variant p.Pro85Leu"],"prefix":"10.1002","volume":"176","author":[{"given":"Cornelia","family":"Kraus","sequence":"first","affiliation":[{"name":"Institute of Human Genetics, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steffen","family":"Uebe","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian T.","family":"Thiel","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arif B.","family":"Ekici","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9","family":"Reis","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8002-2020","authenticated-orcid":false,"given":"Christiane","family":"Zweier","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Friedrich\u2010Alexander\u2010Universit\u00e4t Erlangen\u2010N\u00fcrnberg  Erlangen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,11,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1159\/000365768"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2015.01.044"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12125"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.159"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.52"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201391"},{"issue":"14","key":"e_1_2_7_8_1","doi-asserted-by":"crossref","first-page":"1810","DOI":"10.1101\/gad.14.14.1810","article-title":"BCoR, a novel corepressor involved in BCL\u20106 repression","volume":"14","author":"Huynh K. 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