{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:35:01Z","timestamp":1786977301674,"version":"build-2736575974"},"reference-count":34,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T00:00:00Z","timestamp":1754524800000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2025,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Pathogenic mutations in the ZNF292 gene are a significant genetic cause of Intellectual Developmental Disorder (IDD) in individuals, manifesting with a spectrum of clinical features including mild to severe intellectual impairment, speech delay, and co\u2010occurring autism spectrum disorder (ASD). In this study, we present a novel clinical phenotype associated with a newly identified variant of ZNF292 and conduct a thorough review of relevant literature. A 4\u2010year\u2010old female patient displayed language developmental delays, short stature, and skeletal abnormalities. Trio whole\u2010exome sequencing revealed a novel de novo heterozygous frameshift variant in exon 8 of the ZNF292 gene, c.5977_5978del, p.Gln1993fs. According to the ACMG guidelines, this variant is expected to be pathogenic. Our research unveils a novel variant in ZNF292\u2010related disorders and expands the associated phenotypic spectrum. This study highlights the significance of employing next\u2010generation sequencing for timely patient diagnosis, while further clinical phenotypic and genotypic investigations could improve the understanding of ZNF292\u2010linked conditions.<\/jats:p>","DOI":"10.1002\/ccr3.70747","type":"journal-article","created":{"date-parts":[[2025,8,7]],"date-time":"2025-08-07T07:44:58Z","timestamp":1754552698000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Short Stature and Developmental Delay Associated With a Novel Frame\u2010Shift Mutation in\n                    <scp>ZNF292<\/scp>\n                    : Case Report and Literature Review"],"prefix":"10.1002","volume":"13","author":[{"given":"Li","family":"Dongxue","sequence":"first","affiliation":[{"name":"Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University  Sanya Hainan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yao","family":"Ruen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University  Sanya Hainan China"},{"name":"Department of Medical Genetics, Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Ying","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University  Sanya Hainan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Liting","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University  Sanya Hainan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wang","family":"Jie","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University  Sanya Hainan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Chunjiao","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University  Sanya Hainan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University  Sanya Hainan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Rikun","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University  Sanya Hainan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8300-6237","authenticated-orcid":false,"given":"Li","family":"Cuiyun","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Antenatal Diagnostic Center, Hainan Branch, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University  Sanya Hainan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,7]]},"reference":[{"key":"e_1_2_14_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2023.107799"},{"key":"e_1_2_14_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13312\u2010022\u20102522\u20105"},{"key":"e_1_2_14_4_1","volume-title":"Developmental Delay","author":"Khan I.","year":"2024"},{"key":"e_1_2_14_5_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn511374\u201020220522\u201000345"},{"key":"e_1_2_14_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature14666"},{"key":"e_1_2_14_7_1","doi-asserted-by":"publisher","DOI":"10.18632\/aging.204682"},{"key":"e_1_2_14_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcb.29458"},{"key":"e_1_2_14_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2024.01.023"},{"key":"e_1_2_14_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13772"},{"key":"e_1_2_14_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21062"},{"key":"e_1_2_14_12_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aac9396"},{"key":"e_1_2_14_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0303\u20107207(99)00200\u20102"},{"key":"e_1_2_14_14_1","doi-asserted-by":"publisher","DOI":"10.21147\/j.issn.1000\u20109604.2021.06.01"},{"key":"e_1_2_14_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102135\u2010x"},{"key":"e_1_2_14_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cellsig.2019.04.011"},{"key":"e_1_2_14_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/apm.12545"},{"key":"e_1_2_14_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/15592294.2023.2180585"},{"key":"e_1_2_14_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010019\u20100693\u20109"},{"key":"e_1_2_14_20_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13229\u2010018\u20100247\u2010z"},{"key":"e_1_2_14_21_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn511374\u201020220318\u201000181"},{"key":"e_1_2_14_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010022\u201000284\u20102"},{"key":"e_1_2_14_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms13316"},{"key":"e_1_2_14_24_1","doi-asserted-by":"publisher","DOI":"10.1159\/000452150"},{"key":"e_1_2_14_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3175"},{"key":"e_1_2_14_26_1","doi-asserted-by":"publisher","DOI":"10.6065\/apem.2014.19.1.1"},{"key":"e_1_2_14_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1660"},{"key":"e_1_2_14_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2185"},{"key":"e_1_2_14_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/AUD.0000000000001384"},{"key":"e_1_2_14_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2021.12.007"},{"key":"e_1_2_14_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14228"},{"key":"e_1_2_14_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14191"},{"key":"e_1_2_14_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heares.2020.108135"},{"key":"e_1_2_14_34_1","doi-asserted-by":"publisher","DOI":"10.1177\/03000605211000892"},{"key":"e_1_2_14_35_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1258293"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.70747","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,3]],"date-time":"2025-09-03T11:11:09Z","timestamp":1756897869000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.70747"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8]]},"references-count":34,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2025,8]]}},"alternative-id":["10.1002\/ccr3.70747"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.70747","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,8]]},"assertion":[{"value":"2025-03-12","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-09","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70747"}}