{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T04:03:51Z","timestamp":1789358631733,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T00:00:00Z","timestamp":1789257600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,9,13]],"date-time":"2026-09-13T00:00:00Z","timestamp":1789257600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>LINS1<\/jats:italic>\n                    gene plays a role in cognition and brain development. Mutations in this gene have been identified as the cause of a neurodevelopmental disorder as well as dysmorphisms, motor symptoms, behavioral problems, seizures, microcephaly, mitral valve prolapse, and Q\u2010T prolongation. We recruited two related families with a total of four children affected by\n                    <jats:italic>LINS1<\/jats:italic>\n                    \u2010associated neurodevelopmental disorder. All four subjects have global developmental delay. Congenital heart disease is prominent: Tetralogy of Fallot in two (one with a discontinuous left pulmonary artery), left\u2010sided cardiac hypoplasia with bicuspid aortic valve and membranous VSD in one, and transient aortic dilation with residual mild annular dilation and a small coronary fistula in one. Hyperopia is present in three; the fourth, younger than 2\u2009years, is not yet tested. Dysmorphic features include a long face in two, midface hypoplasia in one, and frontal bossing with prominent eyes in one. All subjects are homozygous for a canonical splice acceptor variant in\n                    <jats:italic>LINS1<\/jats:italic>\n                    (NM_001040616.3:c.490\u20101G&gt;C); parents are heterozygous carriers. We extend the phenotypic spectrum of\n                    <jats:italic>LINS1<\/jats:italic>\n                    \u2010associated neurodevelopmental disorder to include significant structural cardiac anomalies and refractive errors. These observations support consideration of cardiac and ophthalmologic evaluation in individuals with biallelic pathogenic\n                    <jats:italic>LINS1<\/jats:italic>\n                    variants.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70304","type":"journal-article","created":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T03:32:11Z","timestamp":1789356731000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expansion of the Clinical and Molecular Spectrum of\n                    <scp>\n                      <i>LINS1<\/i>\n                    <\/scp>\n                    \u2010Associated Disease"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4728-3303","authenticated-orcid":false,"given":"Ayman Y.","family":"Ibrahim","sequence":"first","affiliation":[{"name":"Johns Hopkins University  Baltimore Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5197-4618","authenticated-orcid":false,"given":"Erika","family":"Levine","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayuko","family":"Iverson","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sangeeta","family":"Sharma","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa","family":"Forman","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Cuccia","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-0998-0235","authenticated-orcid":false,"given":"Mafalda","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Icahn School of Medicine at Mount Sinai  New York New York USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.98"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750\u20101172\u20108\u201087"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.130575"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.24339"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.315531.118"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bj.2021.08.003"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.116.304731"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.32085"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200403050"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/2329048X18791083"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamacardio.2020.4947"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2020.00354"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000500"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38089"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2007.06.006"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003\u20109406.2020.01.015"}],"container-title":["American 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