{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T02:53:50Z","timestamp":1782528830326,"version":"3.54.5"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,3,27]],"date-time":"2025-03-27T00:00:00Z","timestamp":1743033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>EMC10<\/jats:italic>\n                    \u2010Related Neurodevelopmental Disorder (also known as NEDDFAS for Neurodevelopmental Disorder with Dysmorphic Facies and variable Seizures) is an autosomal recessive syndrome characterized by global developmental delay, intellectual disability, microcephaly, seizures, renal abnormalities, and minor facial dysmorphic features. We report an individual with developmental delay and intellectual disability, harboring a homozygous pathogenic mutation in\n                    <jats:italic>EMC10<\/jats:italic>\n                    (NM_206538.4, c.343C&gt;T, p.(Arg115Ter)), identified through exome reanalysis. Notably, this patient presents gingival hyperplasia and scoliosis, features previously associated with\n                    <jats:italic>EMC1<\/jats:italic>\n                    mutations, but not with\n                    <jats:italic>EMC10<\/jats:italic>\n                    mutations. Here, we not only broaden the phenotypic spectrum of\n                    <jats:italic>EMC10<\/jats:italic>\n                    \u2010Related Neurodevelopmental Disorder, but also underscore the importance of exome reanalysis in clinical practice.\n                  <\/jats:p>","DOI":"10.1111\/cge.14743","type":"journal-article","created":{"date-parts":[[2025,3,30]],"date-time":"2025-03-30T11:16:51Z","timestamp":1743333411000},"page":"329-333","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Case Report: Gingival Hyperplasia and Scoliosis as Additional Features of\n                    <i>EMC10<\/i>\n                    \u2010Related Neurodevelopmental Disorder"],"prefix":"10.1111","volume":"108","author":[{"given":"Ga\u00eblle","family":"Forest\u2010St\u2010Onge","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics CHU Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Fran\u00e7ois","family":"Soucy","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics CHU Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Ange","family":"Delrue","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics CHU Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe M.","family":"Campeau","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics CHU Sainte\u2010Justine  Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,3,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2019.01.007"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.01.012"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-biochem-032620-104553"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aao3099"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.01.011"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14311"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.352"},{"issue":"2","key":"e_1_2_7_9_1","doi-asserted-by":"crossref","first-page":"93","DOI":"10.24911\/JBCGenetics\/183-1603863426","article-title":"Neurological and Extra\u2010Neurological Clinical Spectrum Observed in Pediatric Patients With EMC1 Gene Variants Identified by Whole Exome Sequencing","volume":"4","author":"Peer\u2010Zada A. A.","year":"2021","journal-title":"Journal of Biochemical and Clinical Genetics"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103897"},{"key":"e_1_2_7_11_1","doi-asserted-by":"crossref","DOI":"10.3389\/fnmol.2023.1153156","article-title":"Novel Compound Heterozygous Variants in EMC1 Associated With Global Developmental Delay: A Lesson From a Non\u2010Silent Synonymous Exonic Mutation","volume":"16","author":"Wang G.","year":"2023","journal-title":"Frontiers in Molecular Neuroscience"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01097-x"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51602"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13842"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.abb5008"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkab314"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3282"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.3173"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.14743","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T03:32:21Z","timestamp":1754278341000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.14743"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,27]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,9]]}},"alternative-id":["10.1111\/cge.14743"],"URL":"https:\/\/doi.org\/10.1111\/cge.14743","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.14743\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14743\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14743\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14743\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14743\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.14743\/v1\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,27]]},"assertion":[{"value":"2024-11-23","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}