{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T18:14:58Z","timestamp":1791396898886,"version":"4.3.3"},"reference-count":15,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,11,7]],"date-time":"2020-11-07T00:00:00Z","timestamp":1604707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["1ZIAHG000215\u201017"],"award-info":[{"award-number":["1ZIAHG000215\u201017"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000179","name":"Office of the Director","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000179","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","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":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>DYRK1A<\/jats:italic>\u2010Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from de novo heterozygous pathogenic variants in <jats:italic>DYRK1A<\/jats:italic> (OMIM 614104), or chromosomal structural rearrangements involving the <jats:italic>DYRK1A<\/jats:italic> locus. Due to the rarity of <jats:italic>DYRK1A<\/jats:italic>\u2010Related Intellectual Disability Syndrome, the spectrum of symptoms associated with this disease has not been completely defined.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods and results<\/jats:title><jats:p>We present two unrelated cases of <jats:italic>DYRK1A<\/jats:italic>\u2010Related Intellectual Disability Syndrome resulting from variants in <jats:italic>DYRK1A<\/jats:italic>. Both probands presented to the National Institutes of Health (NIH) with multiple dysmorphic facial features, primary microcephaly, absent or minimal speech, feeding difficulties, and cognitive impairment; features that have been previously reported in individuals with <jats:italic>DYRK1A<\/jats:italic>. During NIH evaluation, additional features of enlarged cerebral subarachnoid spaces, retinal vascular tortuosity, and bilateral anomalous large optic discs with increased cup\u2010to\u2010disc ratio were identified in the first proband and multiple ophthalmologic abnormalities and sensorineural hearing loss were identified in the second proband.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We recommend that the workup of future of patients include a comprehensive eye exam. Early establishment of physical, occupational, and speech therapy may help in the management of ataxia, hypertonia, and speech impairments common in these patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1544","type":"journal-article","created":{"date-parts":[[2020,11,7]],"date-time":"2020-11-07T16:04:07Z","timestamp":1604765047000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<i>DYRK1A<\/i> pathogenic variants in two patients with syndromic intellectual disability and a review of the literature"],"prefix":"10.1002","volume":"8","author":[{"given":"Laura E.","family":"Meissner","sequence":"first","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9418-3287","authenticated-orcid":false,"given":"Ellen F.","family":"Macnamara","sequence":"additional","affiliation":[{"name":"Undiagnosed Diseases Program The Common Fund NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Precilla","family":"D'Souza","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute NIH Bethesda MD USA"},{"name":"Undiagnosed Diseases Program The Common Fund NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Yang","sequence":"additional","affiliation":[{"name":"Undiagnosed Diseases Program The Common Fund NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilbert","family":"Vezina","sequence":"additional","affiliation":[{"name":"Division of Diagnostic Imaging and Radiology Children's National Health System Washington DC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Undiagnosed Diseases Network","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2697-1046","authenticated-orcid":false,"given":"Carlos R.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wadih M.","family":"Zein","sequence":"additional","affiliation":[{"name":"Ophthalmic Genetics and Visual Function Branch National Eye Institute NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia J.","family":"Tifft","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute NIH Bethesda MD USA"},{"name":"Undiagnosed Diseases Program The Common Fund NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Adams","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute NIH Bethesda MD USA"},{"name":"Undiagnosed Diseases Program The Common Fund NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,7]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/acel.12648"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2015.29"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2016.253"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229\u2010017\u20100173\u20105"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33228"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.apcsb.2016.07.001"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/dmm.025668"},{"issue":"4","key":"e_1_2_8_9_1","first-page":"997","article-title":"Possible narrowed assignment of the loci of monosomy 21\u2010associated microcephaly and intrauterine growth retardation to a 1.2\u2010Mb segment at 21q22.2","volume":"60","author":"Matsumoto N.","year":"1997","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000320113"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.5607\/en.2013.22.4.244"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.str.2013.03.012"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.03.011"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2015.5"},{"key":"e_1_2_8_15_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Bon B. 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