{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T17:57:49Z","timestamp":1785434269705,"version":"3.56.0"},"reference-count":21,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T00:00:00Z","timestamp":1690329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003970","name":"Isfahan University of Medical Sciences","doi-asserted-by":"publisher","award":["3991102"],"award-info":[{"award-number":["3991102"]}],"id":[{"id":"10.13039\/501100003970","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p><jats:italic>ZNF142<\/jats:italic> gene is a protein\u2010coding gene encoding Zinc Finger Protein 142. ZNF proteins are a vast group of cellular effectors with a wide range of functions such as signal transduction, transcriptional regulation, meiotic recombination, DNA repair, development, and cell migration. Mutations in the <jats:italic>ZNF142<\/jats:italic> gene are related to neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM). This study on a family with three affected siblings identified a pathogenic frameshift insertion variant. In addition, we conducted a review of the literature on previously reported <jats:italic>ZNF142<\/jats:italic> gene variants and their clinical manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Three affected siblings with severe intellectual developmental disabilities and speech impairments, their parents, and other sibs in the family were included. The patients were studied by the whole exome sequencing. Sanger sequencing, co\u2010segregation analysis, and in silico analysis were carried out to verify candidate variant. The identified variant was interpreted based on the ACMG guideline.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a frameshift insertion variant in the <jats:italic>ZNF142<\/jats:italic> gene, NM_001379659.1: c.3755dup (NP_001366588.1:p.Arg1253ThrfsTer15), that was related to the clinical features of three patients. The identified variant was found to be pathogenic.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The current study findings expand the existing knowledge of the variant on the <jats:italic>ZNF142<\/jats:italic> gene implicated in the neurodevelopmental disorder, intellectual disability, and impaired speech and it presents a detailed clinical feature associated with related conditions. The data have implications for genetic diagnosis and counseling in families with the same disorders.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2261","type":"journal-article","created":{"date-parts":[[2023,7,27]],"date-time":"2023-07-27T06:39:54Z","timestamp":1690439994000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A deleterious frameshift insertion mutation in the <i>ZNF142<\/i> gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review"],"prefix":"10.1002","volume":"11","author":[{"given":"Atefeh","family":"Mir","sequence":"first","affiliation":[{"name":"Department of Genetics and Molecular Biology, School of Medicine Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yongjun","family":"Song","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics 3Billion Inc  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hane","family":"Lee","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics 3Billion Inc  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mostafa","family":"Montazer\u2010Zohouri","sequence":"additional","affiliation":[{"name":"Genetics of Non\u2010Communicable Disease Research Center Zahedan University of Medical Sciences  Zahedan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marziyeh","family":"Reisi","sequence":"additional","affiliation":[{"name":"Department of Immunology Shahid Sadoughi University of Medical Sciences  Yazd Iran"}],"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"},{"name":"Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non\u2010Communicable Disease Isfahan University of Medical Sciences  Isfahan Iran"},{"name":"GenTArget Corp (GTAC), Deputy of Research and Technology Isfahan University of Medical Sciences  Isfahan Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,7,26]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2020.00032"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu170"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14165"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1403"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104522"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-021-00978-y"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0523-0"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkaa1043"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp352"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkv1189"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_15_1","volume-title":"Human genetics: From molecules to medicine","author":"Schaaf C. 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