{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T21:28:39Z","timestamp":1791494919467,"version":"4.3.4"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,3,15]],"date-time":"2019-03-15T00:00:00Z","timestamp":1552608000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD084500"],"award-info":[{"award-number":["R01HD084500"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["U54HD061222"],"award-info":[{"award-number":["U54HD061222"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>\n                    Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In the present study, we examine the relationship between duplication size, gene content, and overall phenotype in MDS using a clinical severity scale. Other genes typically duplicated within Xq28 (eg, GDI1, RAB39B, FLNA) are associated with distinct clinical features independent of MECP2. We additionally compare the phenotype of this cohort (n\u2009=\u200948) to other reported cohorts with MDS. Utilizing existing indices of clinical severity in Rett syndrome, we found that larger duplication size correlates with higher severity in total clinical severity scores (\n                    <jats:italic>r<\/jats:italic>\n                    = 0.36;\n                    <jats:italic>P<\/jats:italic>\n                    = 0.02), and in total motor behavioral assessment inventory scores (\n                    <jats:italic>r<\/jats:italic>\n                    = 0.31;\n                    <jats:italic>P<\/jats:italic>\n                    = 0.05). Greater severity was associated with having the\n                    <jats:italic>RAB39B<\/jats:italic>\n                    gene duplicated, although most of these participants also had large duplications. Results suggest that developmental delays in the first 6\u2009months of life, hypotonia, vasomotor disturbances, constipation, drooling, and bruxism are common in MDS. This is the first study to show that duplication size is related to clinical severity. Future studies should examine whether large duplications which do not encompass RAB39B also contribute to clinical severity. Results also suggest the need for creating an MDS specific severity scale.\n                  <\/jats:p>","DOI":"10.1111\/cge.13521","type":"journal-article","created":{"date-parts":[[2019,2,20]],"date-time":"2019-02-20T23:36:14Z","timestamp":1550705774000},"page":"575-581","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":58,"title":["Characterizing the phenotypic effect of Xq28 duplication size in\n                    <i>MECP2<\/i>\n                    duplication syndrome"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7439-5402","authenticated-orcid":false,"given":"Sarika U.","family":"Peters","sequence":"first","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cary","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Suter","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Marsh","sequence":"additional","affiliation":[{"name":"Division of Neurology and Pediatrics Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy A.","family":"Benke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Colorado School of Medicine  Aurora Colorado"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steve A.","family":"Skinner","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center  Greenwood South Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N.","family":"Lieberman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Boston Children's Hospital  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon","family":"Standridge","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Cincinnati Children's Hospital  Cincinnati Ohio"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Jones","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, UCSF Benioff Children's Hospital  Oakland California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur","family":"Beisang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gilette Children's Specialty Healthcare  Saint Paul Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy","family":"Feyma","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Gilette Children's Specialty Healthcare  Saint Paul Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Heydeman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Rush University Medical Center  Chicago Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Ryther","sequence":"additional","affiliation":[{"name":"Department of Neurology, Washington University School of Medicine  St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter E.","family":"Kaufmann","sequence":"additional","affiliation":[{"name":"Dept. Human Genetics, Emory University School of Medicine"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"Glaze","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey L.","family":"Neul","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Vanderbilt University Medical Center  Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan K.","family":"Percy","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Alabama at Birmingham  Birmingham Alabama"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/gm42"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1153252"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2017.11.005"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21715"},{"issue":"3","key":"e_1_2_8_6_1","first-page":"128","article-title":"MECP2 duplication syndrome","volume":"2","author":"Van Esch H","year":"2012","journal-title":"Mol Syndromol"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0395"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000250502.28516.3c"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.075903.107"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.208"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh282"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0401626101"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.6000-11.2012"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104956"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33184"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-013-1796-9"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000291011.54508.aa"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22154"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.019"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.03.018"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100125"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22497"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1338705"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1144"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37384"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.192"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/513321"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature16159"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12814"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1086\/444549"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1186\/1866-1955-6-20"},{"key":"e_1_2_8_32_1","unstructured":"Genome Reference Consortium Human Build 37 (GRCh37). 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