{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:47:22Z","timestamp":1791229642978,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T00:00:00Z","timestamp":1732320000000},"content-version":"vor","delay-in-days":22,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Mammalian Diaphanous\u2010Related Formin (mDia1), which is encoded by the <jats:italic>DIAPH1<\/jats:italic> gene, serves as essential for the regulation of cell morphology and cytoskeletal organization. The role of <jats:italic>DIAPH1<\/jats:italic> in brain development has been extensively established. This study aims to evaluate the clinical, neuroradiological, and genetic characteristics of patients with <jats:italic>DIAPH1<\/jats:italic>\u2010related disease and determine probable genotype\u2013phenotype relationships.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In the current study, exome sequencing was performed to identify the genetic basis of the clinical presentation in an Iranian 7\u2010year\u2010old boy. Validation of the detected variant was done by Sanger sequencing. Furthermore, we performed a comprehensive review of the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here, we detected a novel homozygous c.1285C&gt;\u2009T (p.Gln429*) pathogenic variant in the patient. In silico analysis with prediction software tools identified this variant as a probable source of damage. Twenty cases from seven studies were found after a review of the literature. The patients' main symptoms were a developmental delay, microcephaly, and seizures. The mean age of onset for patients in the group of 20 patients with a known age of onset was 2.3\u2009months (SD\u2009=\u20091.6). Of the variants identified, c.2769del, c.684+1G&gt;A, and c.2332C&gt;\u2009T were identified in 72% of the patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Considering the variant's position in the gene and the encoding protein, a pathogenic effect is predicted for the variant. So, the patient's clinical manifestation is probably caused by this pathogenic variant. Moreover, by studying clinical manifestations in all molecularly confirmed reported cases, provided a comprehensive overview of clinical presentation, and attempted to find a genotype\u2013phenotype correlation.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70031","type":"journal-article","created":{"date-parts":[[2024,11,23]],"date-time":"2024-11-23T08:48:29Z","timestamp":1732351709000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A Novel Homozygote Pathogenic Variant in the <scp>DIAPH1<\/scp> Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (<scp>SCBMS<\/scp>): Report of a Family and Literature Review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4519-8298","authenticated-orcid":false,"given":"Emran","family":"Esmaeilzadeh","sequence":"first","affiliation":[{"name":"Fetal Health Research Center Hope Generation Foundation  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sajjad","family":"Biglari","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine Isfahan University of Medical Sciences  Isfahan Iran"},{"name":"Center for Applied Genomics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meysam","family":"Mosallaei","sequence":"additional","affiliation":[{"name":"Fetal Health Research Center Hope Generation Foundation  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hamid Reza Khorram","family":"Khorshid","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Science  Tehran Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Vahidnezhad","sequence":"additional","affiliation":[{"name":"Center for Applied Genomics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0730-750X","authenticated-orcid":false,"given":"Mohammad Amin","family":"Tabatabaiefar","sequence":"additional","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,11,23]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.04.920"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37422"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3233\/JAD-180088"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anai.2021.08.333"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.82"},{"key":"e_1_2_9_7_1","first-page":"1","article-title":"Homozygous Autosomal Recessive DIAPH1 Mutation Associated With Central Nervous System Involvement and Aspergillosis: A Rare Case. Case Reports","volume":"2022","author":"Esmaeilzadeh H.","year":"2022","journal-title":"Genetics"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38411"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3739"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-083117-021441"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2020.12.656"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2892"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.i4721"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.681122"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn.3020"},{"issue":"23","key":"e_1_2_9_17_1","first-page":"2903","article-title":"A Gain\u2010Of\u2010Function Variant in DIAPH1 Causes Dominant Macrothrombocytopenia and Hearing Loss","volume":"127","author":"Stritt S.","year":"2016","journal-title":"Blood, The Journal of the American Society of Hematology"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80399-8"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201606609"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/archdischild-2012-302882"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1575-0"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty536"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70031","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,11,27]],"date-time":"2024-11-27T07:00:23Z","timestamp":1732690823000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70031"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":21,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1002\/mgg3.70031"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70031","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,11]]},"assertion":[{"value":"2024-05-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-10-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-23","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70031"}}