{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T23:44:26Z","timestamp":1784072666754,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T00:00:00Z","timestamp":1774915200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T00:00:00Z","timestamp":1774915200000},"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":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2026,4]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n Neurodevelopmental disorders (NDDs) are clinically heterogeneous conditions with complex etiologies and limited therapeutic options. Here, we investigated a proband presenting global developmental delay (GDD), tonic seizures, failure to thrive, mild microcephaly, intellectual disability (ID), and hypotonia.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n Exome sequencing (ES), followed by Sanger sequencing, was performed for molecular diagnosis. Gene expression was assessed by reverse\u2010transcriptase quantitative PCR (RT\u2010qPCR), and 3D protein modeling was performed.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n ES revealed a novel de novo (heterozygous) missense variant [c.2660C>T; p.(Pro887Leu)], in\n LRRC7<\/jats:italic>\n (NM_001370785.2) gene, located in exon 18, which may contribute to the proband's phenotype. The identified variant was classified as variant of uncertain significant (VUS) according to the American College of Medical Genetics and Genomics Guidelines (ACMG). RT\u2010qPCR showed reduced\n LRRC7<\/jats:italic>\n mRNA expression in the proband compared to control samples, while and 3D protein modeling revealed substantial changes in the LRRC7\u2010secondary structure.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Using genetic, molecular, in silico, and expression analysis, we characterize a novel de novo\u2010\n LRRC7<\/jats:italic>\n variant and describe its association with an NDD phenotype.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jgm.70090","type":"journal-article","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T02:29:44Z","timestamp":1775010584000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Further Evidence for\n \n LRRC7<\/i>\n <\/scp>\n Gene Involvement in Neurodevelopmental Disorder: A Novel Variant"],"prefix":"10.1002","volume":"28","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5913-8077","authenticated-orcid":false,"given":"Shazia","family":"Khan","sequence":"first","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, School of Dentistry University of Alabama at Birmingham Birmingham Alabama USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1828-4246","authenticated-orcid":false,"given":"Muhammad","family":"Bilal","sequence":"additional","affiliation":[{"name":"Department of Human and Rehabilitation Sciences Begum Nusrat Bhutto Women University Sukkur Sindh Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1961-8105","authenticated-orcid":false,"given":"Hammal","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biosciences COMSATS University Islamabad Islamabad Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qamre","family":"Alam","sequence":"additional","affiliation":[{"name":"Department of Biology, College of Science University of Bahrain Zallaq Bahrain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali\u00a0Bin","family":"Thani","sequence":"additional","affiliation":[{"name":"Department of Biology, College of Science University of Bahrain Zallaq Bahrain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Umair","sequence":"additional","affiliation":[{"name":"Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC) King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH) Riyadh Saudi Arabia"},{"name":"Department of Life Sciences, School of Science University of Management and Technology (UMT) Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,31]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41392\u2010025\u201002145\u20107"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23031851"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41398\u2010019\u20100580\u20109"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/brb3.1891"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010024\u201052095\u2010x"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.129"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13842"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103954"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/jdn.10247"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2117"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.5877\u201010.2011"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn3192"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0049293"}],"container-title":["The Journal of Gene 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