{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T15:08:08Z","timestamp":1787497688672,"version":"build-2736575974"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T00:00:00Z","timestamp":1649808000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      <jats:italic>MEF2C<\/jats:italic>\n                      \u2010related disorders are characterized by developmental and cognitive delay, limited language and walking, hypotonia, and seizures. A recent systematic review identified 117 patients with\n                      <jats:italic>MEF2C<\/jats:italic>\n                      \u2010related disorders across 43 studies. Despite these reports, the disorder is not easily recognized and assessments are hampered by small sample sizes. Our objective was to gather developmental and clinical information on a large number of patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We developed a survey based on validated instruments and subject area experts to gather information from parents of children with this condition. No personal identifiers were collected. Surveys and data were collected via REDCap and analyzed using Excel and SAS v9.4.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Seventy\u2010three parents completed the survey, with 39.7% reporting a\n                      <jats:italic>MEF2C<\/jats:italic>\n                      variant and 54.8% reporting a deletion involving\n                      <jats:italic>MEF2C<\/jats:italic>\n                      . Limited speech (82.1%), seizures (86.3%), bruxism (87.7%), repetitive movements (94.5%), and high pain tolerance (79.5%) were some of the prominent features. Patients with\n                      <jats:italic>MEF2C<\/jats:italic>\n                      variants were similarly affected as those with deletions. Female subjects showed higher verbal abilities.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      This is the largest natural history study to date and establishes a comprehensive review of developmental and clinical features for\n                      <jats:italic>MEF2C<\/jats:italic>\n                      \u2010related disorders. This data can help providers diagnose patients and form the basis for longitudinal or genotype\u2013phenotype studies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.1919","type":"journal-article","created":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T03:04:59Z","timestamp":1649819099000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Clinical findings from the landmark\n                    <i>MEF2C<\/i>\n                    <scp>\u2010related<\/scp>\n                    disorders natural history study"],"prefix":"10.1002","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7050-8796","authenticated-orcid":false,"given":"Jessica A.","family":"Cooley Coleman","sequence":"first","affiliation":[{"name":"School of Nursing Clemson University  Clemson South Carolina USA"},{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1625-7404","authenticated-orcid":false,"given":"Sara M.","family":"Sarasua","sequence":"additional","affiliation":[{"name":"School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah Warren","family":"Moore","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2017-4270","authenticated-orcid":false,"given":"Luigi","family":"Boccuto","sequence":"additional","affiliation":[{"name":"School of Nursing Clemson University  Clemson South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5472-3296","authenticated-orcid":false,"given":"Christopher W.","family":"Cowan","sequence":"additional","affiliation":[{"name":"Department of Neuroscience Medical University of South Carolina  Charleston South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3844-0792","authenticated-orcid":false,"given":"Steven A.","family":"Skinner","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0600-9500","authenticated-orcid":false,"given":"Jane M.","family":"DeLuca","sequence":"additional","affiliation":[{"name":"School of Nursing Clemson University  Clemson South Carolina USA"},{"name":"Greenwood Genetic Center  Greenwood South Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,4,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.acap.2014.05.049"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000336339.08878.2d"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.14.10.1209"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62412"},{"issue":"305","key":"e_1_2_10_6_1","first-page":"1","article-title":"Cigarette smoking during pregnancy: United States, 2016","author":"Drake P.","year":"2018","journal-title":"NCHS Data Brief"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.90"},{"key":"e_1_2_10_8_1","volume-title":"StatPearls","author":"Gray C. 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Retrieved 2021 May 12 fromhttps:\/\/clinicaltrials.gov\/ct2\/show\/NCT02738281"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.seizure.2021.03.025"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2016\u20101159E"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21253"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1919","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.1919","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.1919","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T18:33:20Z","timestamp":1692815600000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.1919"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,13]]},"references-count":26,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,6]]}},"alternative-id":["10.1002\/mgg3.1919"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.1919","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,4,13]]},"assertion":[{"value":"2021-11-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-02-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-04-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e1919"}}