{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T10:33:23Z","timestamp":1789122803533,"version":"build-2803163510"},"reference-count":16,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Telethon Undiagnosed Diseases Program","award":["GSP15001"],"award-info":[{"award-number":["GSP15001"]}]},{"name":"Telethon Undiagnosed Diseases Program","award":["PI20\/01053"],"award-info":[{"award-number":["PI20\/01053"]}]},{"name":"Telethon Undiagnosed Diseases Program","award":["PMP22\/00049"],"award-info":[{"award-number":["PMP22\/00049"]}]},{"DOI":"10.13039\/501100002924","name":"ISCIII-Feder funds","doi-asserted-by":"publisher","award":["GSP15001"],"award-info":[{"award-number":["GSP15001"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"ISCIII-Feder funds","doi-asserted-by":"publisher","award":["PI20\/01053"],"award-info":[{"award-number":["PI20\/01053"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002924","name":"ISCIII-Feder funds","doi-asserted-by":"publisher","award":["PMP22\/00049"],"award-info":[{"award-number":["PMP22\/00049"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Snijders Blok\u2013Campeau syndrome (SNIBCPS, OMIM# 618205) is an extremely infrequent disease with only approximately 60 cases reported so far. SNIBCPS belongs to the group of neurodevelopmental disorders (NDDs). Clinical features of patients with SNIBCPS include global developmental delay, intellectual disability, speech and language difficulties and behavioral disorders like autism spectrum disorder. In addition, patients with SNIBCPS exhibit typical dysmorphic features including macrocephaly, hypertelorism, sparse eyebrows, broad forehead, prominent nose and pointed chin. The severity of the neurological effects as well as the presence of other features is variable among subjects. 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 from 17 unrelated families with confirmed likely pathogenic\/pathogenic variants in CHD3. Patients were analyzed by whole exome sequencing and segregation studies were performed by Sanger sequencing. Patients in this study showed different pathogenic variants affecting several functional domains of the protein. Additionally, none of the variants described here were reported in control population databases, and most computational predictors suggest that they are deleterious. The most common clinical features of the whole cohort of patients are global developmental delay (98%) and speech disorder\/delay (92%). Other frequent features (51\u201374%) include intellectual disability, hypotonia, hypertelorism, abnormality of vision, macrocephaly and prominent forehead, among others. This study expands the number of individuals with confirmed SNIBCPS due to pathogenic or likely pathogenic variants in CHD3. Furthermore, we add evidence of the importance of the application of massive parallel sequencing for NDD patients for whom the clinical diagnosis might be challenging and where deep phenotyping is extremely useful to accurately manage and follow up the patients.<\/jats:p>","DOI":"10.3390\/genes14091664","type":"journal-article","created":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T07:25:24Z","timestamp":1692775524000},"page":"1664","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Snijders Blok\u2013Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-7335-3163","authenticated-orcid":false,"given":"Patricia","family":"Pascual","sequence":"first","affiliation":[{"name":"CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, APHP Sorbonne Universit\u00e9, 75013 Paris, France"},{"name":"Centre de R\u00e9ference D\u00e9ficiences Intellectuelles de Causes Rares, 75013 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro","family":"Arias","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain"},{"name":"INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain"},{"name":"ITHACA, European Reference Network, 1140 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7523-1474","authenticated-orcid":false,"given":"Natalia","family":"Gallego-Zazo","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Research in 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Spain"},{"name":"ITHACA, European Reference Network, 1140 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Cazalla","sequence":"additional","affiliation":[{"name":"INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Silv\u00e1n","sequence":"additional","affiliation":[{"name":"INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine","family":"Heron","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, APHP Sorbonne Universit\u00e9, 75013 Paris, France"},{"name":"Centre de R\u00e9ference D\u00e9ficiences Intellectuelles de Causes Rares, 75013 Paris, 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Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emi","family":"Rikeros","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain"},{"name":"INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain"},{"name":"ITHACA, European Reference Network, 1140 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5732-2209","authenticated-orcid":false,"given":"Feliciano J.","family":"Ramos","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain"},{"name":"Unidad de Gen\u00e9tica Cl\u00ednica, Servicio de Pediatr\u00eda, Hospital Cl\u00ednico Universitario \u2018Lozano Blesa\u2019, Facultad de Medicina, Universidad de Zaragoza, IIS-Arag\u00f3n Grupo B32-20R, 50013 Zaragoza, 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28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saoud Tahsin","family":"Swafiri","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain"},{"name":"Department of Genetics and Genomics, Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Health Research Institute Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS-FJD), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Isabel S\u00e1nchez","family":"Barbero","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain"},{"name":"Department of Genetics and Genomics, Fundaci\u00f3n Jim\u00e9nez D\u00edaz University Hospital, Health Research Institute Fundaci\u00f3n Jim\u00e9nez D\u00edaz (IIS-FJD), 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Varunvenkat M.","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560029, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-0492","authenticated-orcid":false,"given":"Vykuntaraju K.","family":"Gowda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore 560029, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Morleo","sequence":"additional","affiliation":[{"name":"Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy"},{"name":"Department of Precision Medicine, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Telethon Institute of 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Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen","family":"Martin Mesa","sequence":"additional","affiliation":[{"name":"HM Hospitales, 28660 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Paumard","sequence":"additional","affiliation":[{"name":"HM Hospitales, 28660 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gema","family":"Guillen","sequence":"additional","affiliation":[{"name":"HM Hospitales, 28660 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Teresa Serrano","family":"Anton","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, 30120 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta Dom\u00ednguez","family":"Jimenez","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Hospital Cl\u00ednico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, 30120 Murcia, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronica","family":"Seidel","sequence":"additional","affiliation":[{"name":"Genomics Unit, HGU Gregorio Mara\u00f1\u00f3n, 28007 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julia","family":"Su\u00e1rez","sequence":"additional","affiliation":[{"name":"Genomics Unit, HGU Gregorio Mara\u00f1\u00f3n, 28007 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2839-9856","authenticated-orcid":false,"given":"Valerie","family":"Cormier-Daire","sequence":"additional","affiliation":[{"name":"Department of Genomic Medicine for Rare Diseases, INSERM UMR1163, Imagine Institute, Necker Enfants Malades Hospital, Paris Cit\u00e9 University, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"The SOGRI","family":"Consortium","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain"},{"name":"INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain"},{"name":"ITHACA, European Reference Network, 1140 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juli\u00e1n","family":"Nevado","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain"},{"name":"INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain"},{"name":"ITHACA, European Reference Network, 1140 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6324-4825","authenticated-orcid":false,"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"CIBERER, Center for Biomedical Research in Rare Diseases Network, 28029 Madrid, Spain"},{"name":"INGEMM-IdiPaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain"},{"name":"ITHACA, European Reference Network, 1140 Brussels, Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"4619","DOI":"10.1038\/s41467-018-06014-6","article-title":"CHD3 Helicase Domain Mutations Cause a Neurodevelopmental Syndrome with Macrocephaly and Impaired Speech and Language","volume":"9","author":"Rousseau","year":"2018","journal-title":"Nat. Commun."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1422","DOI":"10.1038\/s41431-020-0654-4","article-title":"A Second Cohort of CHD3 Patients Expands the Molecular Mechanisms Known to Cause Snijders Blok-Campeau Syndrome","volume":"28","author":"Drivas","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"104166","DOI":"10.1016\/j.ejmg.2021.104166","article-title":"Hypersociability Associated with Developmental Delay, Macrocephaly and Facial Dysmorphism Points to CHD3 Mutations","volume":"64","author":"Coursimault","year":"2021","journal-title":"Eur. J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1016\/j.braindev.2020.12.004","article-title":"A de Novo CHD3 Variant in a Child with Intellectual Disability, Autism, Joint Laxity, and Dysmorphisms","volume":"43","author":"Mizukami","year":"2021","journal-title":"Brain Dev."},{"key":"ref_5","first-page":"965","article-title":"Snijders Blok-Campeau Syndrome Caused by CHD3 Gene Mutation: A Case Report","volume":"23","author":"Fan","year":"2021","journal-title":"Zhongguo Dang Dai Er Ke Za Zhi Chin. J. Contemp. Pediatr."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1002\/ajmg.a.63096","article-title":"A Novel CHD3 Variant in a Patient with Central Precocious Puberty: Expanded Phenotype of Snijders Blok-Campeau Syndrome?","volume":"191","author":"LeBreton","year":"2023","journal-title":"Am. J. Med. Genet. 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B"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/9\/1664\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:40:26Z","timestamp":1760128826000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/9\/1664"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,23]]},"references-count":16,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2023,9]]}},"alternative-id":["genes14091664"],"URL":"https:\/\/doi.org\/10.3390\/genes14091664","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,23]]}}}