{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T00:33:44Z","timestamp":1792197224444,"version":"4.4.0"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T00:00:00Z","timestamp":1608595200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      <jats:italic>CTNNB1<\/jats:italic>\n                      (MIM 116806) encodes beta\u2010catenin, an adherens junction protein that supports the integrity between layers of epithelial tissue and mediates intercellular signaling. Recently, various heterozygous germline variants in\n                      <jats:italic>CTNNB1<\/jats:italic>\n                      have been associated with human disease, including neurodevelopmental disorder with spastic diplegia and visual defects (MIM 615075) as well as isolated familial exudative vitreoretinopathy without developmental delays or other organ system involvement (MIM 617572). From over 40 previously reported patients with\n                      <jats:italic>CTNNB1<\/jats:italic>\n                      \u2010related neurodevelopmental disorder, many have had ocular anomalies including strabismus, hyperopia, and astigmatism. More recently, multiple reports indicate that these abnormalities are associated with the presence of vitreoretinopathy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We gathered a cohort of three patients with\n                      <jats:italic>CTNNB1<\/jats:italic>\n                      \u2010related neurodevelopmental disorder, recruited from both our own clinic and referred from outside providers. We then searched for a clinical database comprised of over 12,000 exome sequencing studies to identify and recruit four additional patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Here, we report seven new cases of\n                      <jats:italic>CTNNB1<\/jats:italic>\n                      \u2010related neurodevelopmental disorder, all harboring\n                      <jats:italic>de novo<\/jats:italic>\n                      variants, six of which were previously unreported. All patients but one presented with a spectrum of ocular abnormalities and one patient, who was found to carry a missense variant in\n                      <jats:italic>CTNNB1<\/jats:italic>\n                      , had notable vitreoretinopathy.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Our findings suggest ophthalmologic screening should be performed in all patients with\n                      <jats:italic>CTNNB1<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1542","type":"journal-article","created":{"date-parts":[[2020,12,22]],"date-time":"2020-12-22T19:38:37Z","timestamp":1608665917000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Missense variants in\n                    <i>CTNNB1<\/i>\n                    can be associated with vitreoretinopathy\u2014Seven new cases of\n                    <i>CTNNB1<\/i>\n                    \u2010associated neurodevelopmental disorder including a previously unreported retinal phenotype"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8953-3246","authenticated-orcid":false,"given":"Linda Z.","family":"Rossetti","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mir Reza","family":"Bekheirnia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea M.","family":"Lewis","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather C.","family":"Mefford","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Department of Pediatrics University of Washington Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katie","family":"Golden\u2010Grant","sequence":"additional","affiliation":[{"name":"Division of Genetic Medicine Department of Pediatrics University of Washington Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina","family":"Tarczy\u2010Hornoch","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University of Washington Seattle WA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren C.","family":"Briere","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism Department of Pediatrics Massachusetts General Hospital Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Sweetser","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics and Metabolism Department of Pediatrics Massachusetts General Hospital Harvard Medical School Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa A.","family":"Walker","sequence":"additional","affiliation":[{"name":"Department of Neurology Division of Neurogenetics Child Neurology Massachusetts General Hospital Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elijah","family":"Kravets","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Stanford University Stanford CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Stevenson","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Stanford University Stanford CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgette","family":"Bruenner","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics Cohen Children\u2019s Medical Center Queens NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica","family":"Sebastian","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics UPMC Children\u2019s Hospital of Pittsburgh Pittsburgh PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Knapo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Department of Pediatrics UPMC Children\u2019s Hospital of Pittsburgh Pittsburgh PA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul C.","family":"Marcogliese","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"},{"name":"Jan and Dan Duncan Texas Children\u2019s Neurological Research Institute Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Undiagnosed Diseases Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F.","family":"Wangler","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA"},{"name":"Jan and Dan Duncan Texas Children\u2019s Neurological Research Institute Houston TX USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,12,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2020.1723118"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2015.1120318"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36484"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0407187101"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.11.008"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010014\u20101498\u20101"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000006914"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.05.001"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8259511"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.18\u201025142"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1205591"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/ICB.0000000000000990"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI70372"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072\u2010019\u201003823\u20105"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883\u2010016\u20100554\u2010y"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI36460"}],"container-title":["Molecular 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