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Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530855/ https://www.ncbi.nlm.nih.gov/pubmed/37761804 http://dx.doi.org/10.3390/genes14091664 |
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author | Pascual, Patricia Tenorio-Castano, Jair Mignot, Cyril Afenjar, Alexandra Arias, Pedro Gallego-Zazo, Natalia Parra, Alejandro Miranda, Lucia Cazalla, Mario Silván, Cristina Heron, Delphine Keren, Boris Popa, Ioana Palomares, María Rikeros, Emi Ramos, Feliciano J. Almoguera, Berta Ayuso, Carmen Swafiri, Saoud Tahsin Barbero, Ana Isabel Sánchez Srinivasan, Varunvenkat M. Gowda, Vykuntaraju K. Morleo, Manuela Nigro, Vicenzo D’Arrigo, Stefano Ciaccio, Claudia Martin Mesa, Carmen Paumard, Beatriz Guillen, Gema Anton, Ana Teresa Serrano Jimenez, Marta Domínguez Seidel, Veronica Suárez, Julia Cormier-Daire, Valerie Consortium, The SOGRI Nevado, Julián Lapunzina, Pablo |
author_facet | Pascual, Patricia Tenorio-Castano, Jair Mignot, Cyril Afenjar, Alexandra Arias, Pedro Gallego-Zazo, Natalia Parra, Alejandro Miranda, Lucia Cazalla, Mario Silván, Cristina Heron, Delphine Keren, Boris Popa, Ioana Palomares, María Rikeros, Emi Ramos, Feliciano J. Almoguera, Berta Ayuso, Carmen Swafiri, Saoud Tahsin Barbero, Ana Isabel Sánchez Srinivasan, Varunvenkat M. Gowda, Vykuntaraju K. Morleo, Manuela Nigro, Vicenzo D’Arrigo, Stefano Ciaccio, Claudia Martin Mesa, Carmen Paumard, Beatriz Guillen, Gema Anton, Ana Teresa Serrano Jimenez, Marta Domínguez Seidel, Veronica Suárez, Julia Cormier-Daire, Valerie Consortium, The SOGRI Nevado, Julián Lapunzina, Pablo |
author_sort | Pascual, Patricia |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-10530855 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-105308552023-09-28 Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review Pascual, Patricia Tenorio-Castano, Jair Mignot, Cyril Afenjar, Alexandra Arias, Pedro Gallego-Zazo, Natalia Parra, Alejandro Miranda, Lucia Cazalla, Mario Silván, Cristina Heron, Delphine Keren, Boris Popa, Ioana Palomares, María Rikeros, Emi Ramos, Feliciano J. Almoguera, Berta Ayuso, Carmen Swafiri, Saoud Tahsin Barbero, Ana Isabel Sánchez Srinivasan, Varunvenkat M. Gowda, Vykuntaraju K. Morleo, Manuela Nigro, Vicenzo D’Arrigo, Stefano Ciaccio, Claudia Martin Mesa, Carmen Paumard, Beatriz Guillen, Gema Anton, Ana Teresa Serrano Jimenez, Marta Domínguez Seidel, Veronica Suárez, Julia Cormier-Daire, Valerie Consortium, The SOGRI Nevado, Julián Lapunzina, Pablo Genes (Basel) Article 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. MDPI 2023-08-23 /pmc/articles/PMC10530855/ /pubmed/37761804 http://dx.doi.org/10.3390/genes14091664 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Pascual, Patricia Tenorio-Castano, Jair Mignot, Cyril Afenjar, Alexandra Arias, Pedro Gallego-Zazo, Natalia Parra, Alejandro Miranda, Lucia Cazalla, Mario Silván, Cristina Heron, Delphine Keren, Boris Popa, Ioana Palomares, María Rikeros, Emi Ramos, Feliciano J. Almoguera, Berta Ayuso, Carmen Swafiri, Saoud Tahsin Barbero, Ana Isabel Sánchez Srinivasan, Varunvenkat M. Gowda, Vykuntaraju K. Morleo, Manuela Nigro, Vicenzo D’Arrigo, Stefano Ciaccio, Claudia Martin Mesa, Carmen Paumard, Beatriz Guillen, Gema Anton, Ana Teresa Serrano Jimenez, Marta Domínguez Seidel, Veronica Suárez, Julia Cormier-Daire, Valerie Consortium, The SOGRI Nevado, Julián Lapunzina, Pablo Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review |
title | Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review |
title_full | Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review |
title_fullStr | Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review |
title_full_unstemmed | Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review |
title_short | Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review |
title_sort | snijders blok–campeau syndrome: description of 20 additional individuals with variants in chd3 and literature review |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530855/ https://www.ncbi.nlm.nih.gov/pubmed/37761804 http://dx.doi.org/10.3390/genes14091664 |
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