{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T02:51:32Z","timestamp":1775703092521,"version":"3.50.1"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T00:00:00Z","timestamp":1720569600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Snijders Blok-Campeau syndrome (SNIBCPS) is a rare genetic disorder characterized by facial abnormalities, hypotonia, macrocephaly, and global developmental delay (GDD) caused by mutations in <jats:italic>CHD3<\/jats:italic> gene. There is limited information on SNIBCPS and few studies on its pathogenic gene <jats:italic>CHD3<\/jats:italic>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We utilized whole-exome sequencing, <jats:italic>in vitro<\/jats:italic> minigene splicing assay analysis, and construction of protein models to validate the suspected pathogenic mutation. In addition, the PubMed database was searched using the keywords \u201cSnijders Blok-Campeau syndrome,\u201d \u201c<jats:italic>CHD3<\/jats:italic>,\u201d or \u201cSNIBCPS\u201d to summarize the gene mutations and clinical phenotypic characteristics of children with SNIBCPS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a non-frameshift variant c.3592_c.3606delGCCAAGAGAAAGATG, a splice site variant c.1708-1G&amp;gt;T, and two missense variants, c. 2954G&amp;gt;C (p.Arg985Pro) and c.3371C&amp;gt;T (p.A1124V), in <jats:italic>CHD3<\/jats:italic> variants with SNIBCPS. Importantly, the c.3592_c.3606delGCCAAGAGAAAGATG, c.1708-1G&amp;gt;T, and c.3371C &amp;gt; T (p.A1124V) loci were not reported, and the children in this study also had phenotypic features of unibrow, transverse palmar creases, tracheal bronchus, and hypomelanosis of Ito (HI). The c.1708-1G&amp;gt;T classical splicing mutation leads to abnormal shearing of mRNA, forming a truncated protein that ultimately affects gene function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings have expanded the spectrum of genetic variants and clinical features in children with SNIBCPS. Splicing analysis of <jats:italic>CHD3<\/jats:italic> is an important method to understand the pathogenesis of spliced cells.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fgene.2024.1347933","type":"journal-article","created":{"date-parts":[[2024,7,10]],"date-time":"2024-07-10T04:58:46Z","timestamp":1720587526000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations"],"prefix":"10.3389","volume":"15","author":[{"given":"Yuanyuan","family":"Gao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengying","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kexin","family":"Pang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yifan","family":"Sun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bixia","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taisong","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongmei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,7,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1016\/j.trsl.2014.05.003","article-title":"The nucleosome remodeling and deacetylase complex in development and disease","volume":"165","author":"Basta","year":"2015","journal-title":"Transl. 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