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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
van der Spek J, den Hoed J, Snijders Blok L, Dingemans AJM, Schijven D, Nellaker C, Venselaar H, Astuti GDN, Barakat TS, Bebin EM, Beck-Wödl S, Beunders G, Brown NJ, Brunet T, Brunner HG, Campeau PM, Čuturilo G, Gilissen C, Haack TB, Hüning I, Husain RA, Kamien B, Lim SC, Lovrecic L, Magg J, Maver A, Miranda V, Monteil DC, Ockeloen CW, Pais LS, Plaiasu V, Raiti L, Richmond C, Rieß A, Schwaibold EMC, Simon MEH, Spranger S, Tan TY, Thompson ML, de Vries BBA, Wilkins EJ, Willemsen MH, Francks C, Vissers LELM, Fisher SE, Kleefstra T. van der Spek J, et al. Genet Med. 2022 Jun;24(6):1283-1296. doi: 10.1016/j.gim.2022.02.014. Epub 2022 Mar 26. Genet Med. 2022. PMID: 35346573 Free article.
METHODS: We characterized 21 families with inherited heterozygous missense or protein-truncating variants in CHD3, a gene in which de novo variants cause Snijders Blok-Campeau syndrome. RESULTS: Computational facial and Human Phenotype Ontology-based comparisons showed tha …
METHODS: We characterized 21 families with inherited heterozygous missense or protein-truncating variants in CHD3, a gene in which de …
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to be involved in chromatin remodeling by deacetylating histones. Here, we report 20 additional patients with clinical features compatible with …
SNIBCPS is caused likely by pathogenic and pathogenic variants in CHD3 (Chromodomain Helicase DNA Binding Protein 3), which seems to …
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.
Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T; DDD study; Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faivre L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM. Snijders Blok L, et al. Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6. Nat Commun. 2018. PMID: 30397230 Free PMC article.
We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children with rare speech disorders. To gain a comprehensive view of features associated with disruption of this gene, we use a genotype-driven appr …
We describe an index case with a de novo missense mutation in CHD3, identified during whole genome sequencing of a cohort of children …
CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.
Chen L, Bu Y, Yu Y, Chen Y, Lei X. Chen L, et al. Eur J Med Genet. 2025 Feb;73:104988. doi: 10.1016/j.ejmg.2024.104988. Epub 2024 Dec 19. Eur J Med Genet. 2025. PMID: 39709005 Free article.
In conclusion, CHD3 gene mutations represent a rare disease with diverse clinical phenotypic features. This patient contributes valuable insights into the understanding of CHD3 gene mutation manifestations, expanding the scope beyond previously reported features....
In conclusion, CHD3 gene mutations represent a rare disease with diverse clinical phenotypic features. This patient contributes valua …
Novel genotypes and phenotypes in Snijders Blok-Campeau syndrome caused by CHD3 mutations.
Gao Y, Wang P, Chen M, Pang K, Sun Y, Zheng B, Li T, Zhang H, Zhu M. Gao Y, et al. Front Genet. 2024 Jul 10;15:1347933. doi: 10.3389/fgene.2024.1347933. eCollection 2024. Front Genet. 2024. PMID: 39050258 Free PMC article.
BACKGROUND: 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 CHD3 gene. There is limited information on SNIBCPS and few studies on …
BACKGROUND: Snijders Blok-Campeau syndrome (SNIBCPS) is a rare genetic disorder characterized by facial abnormalities, hypotonia, macrocepha …
In vivo base editing of Chd3 rescues behavioural abnormalities in mice.
Yang K, Li WK, Geng YX, Zhang SQ, Wu SH, Cheng YB, Wang JW, Xu ZK, Wang WX, Zhang TY, Wang PY, Yuan YT, Fan J, Wu J, Xu RC, Zhang YF, Tao GJ, Li ZH, Lin CX, Li TS, Zhang XY, Li J, Zhang R, Yang WX, Wen JS, Yang ZY, Gong L, Zeng W, Du AL, Li JS, Li F, Cheng TL, Qiu Z. Yang K, et al. Nature. 2026 Mar;651(8106):785-795. doi: 10.1038/s41586-026-10113-6. Epub 2026 Feb 18. Nature. 2026. PMID: 41708849 Free PMC article.
Snijders Blok-Campeau syndrome (SNIBCPS)(1), which is caused by pathogenic variants in CHD3, manifests with intellectual disability, autistic-like behaviours and motor deficits(2). ...Here we show that modelling the recurrent CHD3 variant p.R1025W in a humanized mou …
Snijders Blok-Campeau syndrome (SNIBCPS)(1), which is caused by pathogenic variants in CHD3, manifests with intellectual disability, …
The NuRD component CHD3 promotes BMP signalling during cranial neural crest cell specification.
Mitchell ZH, den Hoed J, Claassen W, Demurtas M, Deelen L, Campeau PM, Liu K, Fisher SE, Trizzino M. Mitchell ZH, et al. EMBO Rep. 2025 Oct;26(19):4723-4741. doi: 10.1038/s44319-025-00555-w. Epub 2025 Aug 20. EMBO Rep. 2025. PMID: 40835974 Free PMC article.
To investigate the role of CHD3 in craniofacial development, we differentiated control and CHD3-depleted human-induced pluripotent stem cells into cranial neural crest cells (CNCCs). ...Our findings highlight a novel role for CHD3 as a pivotal regulator of BM …
To investigate the role of CHD3 in craniofacial development, we differentiated control and CHD3-depleted human-induced pluripo …
FBW7-Mediated Degradation of CHD3 Suppresses Hepatocellular Carcinoma Metastasis and Stemness to Enhance Oxaliplatin Sensitivity.
Li S, Fan T, Wu C. Li S, et al. Front Biosci (Landmark Ed). 2024 Oct 16;29(10):357. doi: 10.31083/j.fbl2910357. Front Biosci (Landmark Ed). 2024. PMID: 39473409 Free article.
RESULTS: The prediction of Ubibrowser revealed CHD3 as a target protein of FBW7. The data of starBase exhibited a higher expression level of CHD3 in LIHC samples relative to normal samples. CHD3 was upregulated in HCC cells. CHD3 knockdown inhibited HC …
RESULTS: The prediction of Ubibrowser revealed CHD3 as a target protein of FBW7. The data of starBase exhibited a higher expression l …
The chromatin-remodeling enzyme CHD3 plays a role in embryonic viability but is dispensable for early vascular development.
Xie J, Gao S, Schafer C, Colijn S, Muthukumar V, Griffin CT. Xie J, et al. PLoS One. 2020 Jul 13;15(7):e0235799. doi: 10.1371/journal.pone.0235799. eCollection 2020. PLoS One. 2020. PMID: 32658897 Free PMC article.
Since NuRD complexes can incorporate the ATPase CHD3 as an alternative to CHD4, we questioned whether the CHD3 enzyme likewise modulates vascular development or integrity. ...Furthermore, double-deletion of Chd3 and Chd4 in embryonic endothelial cells (Chd …
Since NuRD complexes can incorporate the ATPase CHD3 as an alternative to CHD4, we questioned whether the CHD3 enzyme likewise …
CHD3 and CHD4 form distinct NuRD complexes with different yet overlapping functionality.
Hoffmeister H, Fuchs A, Erdel F, Pinz S, Gröbner-Ferreira R, Bruckmann A, Deutzmann R, Schwartz U, Maldonado R, Huber C, Dendorfer AS, Rippe K, Längst G. Hoffmeister H, et al. Nucleic Acids Res. 2017 Oct 13;45(18):10534-10554. doi: 10.1093/nar/gkx711. Nucleic Acids Res. 2017. PMID: 28977666 Free PMC article.
But, CHD3 and CHD4 exhibit distinct nuclear localization patterns in unperturbed cells, revealing a subset of specific target genes. Furthermore, CHD3 and CHD4 differ in their nucleosome remodeling and positioning behaviour in vitro. ...
But, CHD3 and CHD4 exhibit distinct nuclear localization patterns in unperturbed cells, revealing a subset of specific target genes. …
293 results