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This work was supported in part by Telethon Undiagnosed Diseases Program (TUDP,GSP15001), ISCIII-Feder funds: grants FIS PI20/01053, PMP22/00049.

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Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

Publicated to:Genes. 14 (9): 1664- - 2023-09-01 14(9), DOI: 10.3390/genes14091664

Authors: Pascual, Patricia; Tenorio-Castano, Jair; Mignot, Cyril; Afenjar, Alexandra; Arias, Pedro; Gallego-Zazo, Natalia; Parra, Alejandro; Miranda, Lucia; Cazalla, Mario; Silvan, Cristina; Heron, Delphine; Keren, Boris; Popa, Ioana; Palomares, Maria; Rikeros, Emi; Ramos, Feliciano J; Almoguera, Berta; Ayuso, Carmen; Swafiri, Saoud Tahsin; Barbero, Ana Isabel Sanchez; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Morleo, Manuela; Nigro, Vicenzo; D'Arrigo, Stefano; Ciaccio, Claudia; Mesa, Carmen Martin; Paumard, Beatriz; Guillen, Gema; Anton, Ana Teresa Serrano; Jimenez, Marta Dominguez; Seidel, Veronica; Suarez, Julia; Cormier-Daire, Valerie; Nevado, Julian; Lapunzina, Pablo

Affiliations

Ctr Biomed Res Rare Dis Network, CIBERER, Madrid 28029, Spain - Author
Ctr Reference Deficiences Intellectuelles Causes R, F-75013 Paris, France - Author
European Reference Network, ITHACA, B-1140 Brussels, Belgium - Author
Fdn IRCCS Ist Neurol Carlo Besta, Dept Pediat Neurosci, I-20126 Milan, Italy - Author
Fdn Jimenez Diaz Univ Hosp, Hlth Res Inst Fdn Jimenez Diaz IIS FJD, Dept Genet & Genom, Madrid 28040, Spain - Author
HGU Gregorio Maranon, Genom Unit, Madrid 28007, Spain - Author
HM Hosp, Madrid 28660, Spain - Author
Hosp Clin Univ Virgen Arrixaca, Dept Oncol Med, IMIB ARRIXACA, Murcia 30120, Spain - Author
Indira Gandhi Inst Child Hlth, Dept Pediat Neurol, Bangalore 560029, India - Author
Inst Med & Mol Genet, INGEMM, IdiPaz, Madrid 28046, Spain - Author
Paris Cite Univ, Necker Enfants Malad Hosp, Imagine Inst, Dept Genom Med Rare Dis,INSERM,UMR116, F-75015 Paris, France - Author
Sorbonne Univ, Dept Genet, APHP, F-75013 Paris, France - Author
Telethon Inst Genet & Med TIGEM, I-80078 Pozzuoli, Italy - Author
Univ Campania Luigi Vanvitelli, Dept Precis Med, I-80138 Naples, Italy - Author
Univ Zaragoza, Hosp Clin Univ Lozano Blesa, Fac Med, Serv Pediat,Unidad Genet Clin,IIS-Aragon Grp, B32-20R, Zaragoza 50013, Spain - Author
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Abstract

Snijders Blok-Campeau 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 (51-74%) 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.

Keywords

Chd3Chd3 protein, humanDevelopmental disabilitiesDna helicasesHistonesHumansHypertelorismIntellectual disabilityLanguage development disordersMegalencephalyMi-2 nucleosome remodeling and deacetylase complexNeurodevelopmental disordersOvergrowthSnibcpsSnijders blok-campeau syndromeSnijders blok–campeau syndrome

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Genes due to its progression and the good impact it has achieved in recent years, according to the agency WoS (JCR), it has become a reference in its field. In the year of publication of the work, 2023, it was in position 85/191, thus managing to position itself as a Q2 (Segundo Cuartil), in the category Genetics & Heredity. Notably, the journal is positioned en el Cuartil Q2 para la agencia Scopus (SJR) en la categoría Genetics.

From a relative perspective, and based on the normalized impact indicator calculated from the Field Citation Ratio (FCR) of the Dimensions source, it yields a value of: 2.7, which indicates that, compared to works in the same discipline and in the same year of publication, it ranks as a work cited above average. (source consulted: Dimensions Jun 2025)

Specifically, and according to different indexing agencies, this work has accumulated citations as of 2025-06-25, the following number of citations:

  • WoS: 1
  • Scopus: 2
  • Europe PMC: 3
  • OpenCitations: 3

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-25:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 34.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 34 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 5.25.
  • The number of mentions on the social network X (formerly Twitter): 4 (Altmetric).
  • The number of mentions on Wikipedia: 2 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.

Leadership analysis of institutional authors

This work has been carried out with international collaboration, specifically with researchers from: Belgium; France; India; Italy.