{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T02:53:51Z","timestamp":1782528831448,"version":"3.54.5"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T00:00:00Z","timestamp":1753920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T00:00:00Z","timestamp":1753920000000},"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":["Developmental Neurobiology"],"published-print":{"date-parts":[[2025,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>EMC10<\/jats:italic>\n                    gene on chromosome 19 encodes one of the highly conserved endoplasmic reticulum membrane complexes (EMC). Specific mutations in\n                    <jats:italic>EMC10<\/jats:italic>\n                    cause a disorder known as neurodevelopmental disorder with dysmorphic facies and variable seizures (NEDDFAS) (OMIM #619264), characterized by global developmental delay and dysmorphic facial features, which become apparent in early childhood. This study aims to present the clinical data associated with a novel variant of a patient diagnosed with NEDDFAS (OMIM #619264), a condition rarely reported in the literature. By examining the phenotypic implications and molecular mechanisms of pathogenic variants in the\n                    <jats:italic>EMC10<\/jats:italic>\n                    gene, this study seeks to contribute to a better understanding of the genetic and clinical spectrum of the disease. Our case was followed up in the Child and Adolescent Psychiatry clinic with the diagnosis of intellectual disability. Initial genetic testing included karyotype analysis,\n                    <jats:italic>FMR1<\/jats:italic>\n                    CGG repeat analysis, and chromosomal microarray analysis. Subsequently, whole\u2010exome sequencing (WES) was performed, and Sanger sequencing was used to confirm the identified variant and conduct familial segregation analysis. We identified a novel homozygous frameshift variant in the\n                    <jats:italic>EMC10<\/jats:italic>\n                    gene, NM_206538.4:c.431del, resulting in NP_996261.1:p.Asp144AlafsTer3 using WES. This variant was classified as pathogenic (P) according to ACMG criteria, which was clinically relevant to the patient's condition. Segregation analysis revealed that both the mother and the father were heterozygous carriers of this variant. To date, the phenotype associated with this variant has been reported in 31 individuals from 16 different families. To our knowledge, our case is the first reported patient in the Turkish population carrying an\n                    <jats:italic>EMC10<\/jats:italic>\n                    gene variant. Among reported cases, variations in symptom distribution and severity have been observed. We propose that\n                    <jats:italic>EMC10<\/jats:italic>\n                    gene variants may exhibit dual molecular effects. There are two types of neurodevelopmental clinical presentations: (1) a classic disease pattern with mild\u2010to\u2010moderate intellectual disability (ID) and no neurological findings and (2) a progressive disease pattern with severe ID, hypotonia, and abnormalities in gait.\n                  <\/jats:p>","DOI":"10.1002\/dneu.22994","type":"journal-article","created":{"date-parts":[[2025,7,31]],"date-time":"2025-07-31T10:30:10Z","timestamp":1753957810000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["<i>EMC10<\/i>\n                    Gene Variants May Cause Dual Molecular Effects on the Neuropsychiatric Disease Pattern"],"prefix":"10.1002","volume":"85","author":[{"given":"Hilmi","family":"Bolat","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Bal\u0131kesir University  Bal\u0131kesir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilan","family":"Gen\u00e7 Akda\u011f","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Bal\u0131kesir University  Bal\u0131kesir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00fcl","family":"\u00dcnsel\u2010Bolat","sequence":"additional","affiliation":[{"name":"Department of Child and Adolescent Psychiatry, Faculty of Medicine Bal\u0131kesir University  Bal\u0131kesir T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,7,31]]},"reference":[{"issue":"4","key":"e_1_2_8_2_1","first-page":"263","article-title":"Distinct Autism Spectrum Disorder Phenotype and Hand\u2010Flapping Stereotypes: Two Siblings With Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review","volume":"13","author":"Bolat H.","year":"2022","journal-title":"Molecular Syndromology"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2024.03.047"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000529018"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2022.01.012"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.51602"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.1001969"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-021-01097-x"},{"key":"e_1_2_8_10_1","volume-title":"EMC10\u2010Related Neurodevelopmental Disorder","author":"Umair M.","year":"2023"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13842"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/jmcb\/mjy024"}],"container-title":["Developmental Neurobiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dneu.22994","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/dneu.22994","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/dneu.22994","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T22:42:24Z","timestamp":1773009744000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/dneu.22994"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7,31]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,10]]}},"alternative-id":["10.1002\/dneu.22994"],"URL":"https:\/\/doi.org\/10.1002\/dneu.22994","archive":["Portico"],"relation":{},"ISSN":["1932-8451","1932-846X"],"issn-type":[{"value":"1932-8451","type":"print"},{"value":"1932-846X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,7,31]]},"assertion":[{"value":"2025-04-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-16","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-31","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e22994"}}