000129906 001__ 129906
000129906 005__ 20241125101148.0
000129906 0247_ $$2doi$$a10.3390/genes14091664
000129906 0248_ $$2sideral$$a136195
000129906 037__ $$aART-2023-136195
000129906 041__ $$aeng
000129906 100__ $$aPascual, Patricia
000129906 245__ $$aSnijders Blok–Campeau Syndrome: Description of 20 additional individuals with variants in CHD3 and literature review
000129906 260__ $$c2023
000129906 5060_ $$aAccess copy available to the general public$$fUnrestricted
000129906 5203_ $$aSnijders 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.
000129906 536__ $$9info:eu-repo/grantAgreement/ES/ISCIII/PI20-01053
000129906 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000129906 590__ $$a2.8$$b2023
000129906 592__ $$a0.817$$b2023
000129906 591__ $$aGENETICS & HEREDITY$$b85 / 191 = 0.445$$c2023$$dQ2$$eT2
000129906 593__ $$aGenetics$$c2023$$dQ2
000129906 593__ $$aGenetics (clinical)$$c2023$$dQ3
000129906 594__ $$a5.2$$b2023
000129906 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000129906 700__ $$aTenorio-Castano, Jair
000129906 700__ $$aMignot, Cyril
000129906 700__ $$aAfenjar, Alexandra
000129906 700__ $$aArias, Pedro
000129906 700__ $$aGallego-Zazo, Natalia
000129906 700__ $$aParra, Alejandro
000129906 700__ $$aMiranda, Lucia
000129906 700__ $$aCazalla, Mario
000129906 700__ $$aSilván, Cristina
000129906 700__ $$aHeron, Delphine
000129906 700__ $$aKeren, Boris
000129906 700__ $$aPopa, Ioana
000129906 700__ $$aPalomares, María
000129906 700__ $$aRikeros, Emi
000129906 700__ $$0(orcid)0000-0002-5732-2209$$aRamos, Feliciano J.$$uUniversidad de Zaragoza
000129906 700__ $$aAlmoguera, Berta
000129906 700__ $$aAyuso, Carmen
000129906 700__ $$aSwafiri, Saoud Tahsin
000129906 700__ $$aBarbero, Ana Isabel Sánchez
000129906 700__ $$aSrinivasan, Varunvenkat M.
000129906 700__ $$aGowda, Vykuntaraju K.
000129906 700__ $$aMorleo, Manuela
000129906 700__ $$aNigro, Vicenzo
000129906 700__ $$aD’Arrigo, Stefano
000129906 700__ $$aCiaccio, Claudia
000129906 700__ $$aMartin Mesa, Carmen
000129906 700__ $$aPaumard, Beatriz
000129906 700__ $$aGuillen, Gema
000129906 700__ $$aAnton, Ana Teresa Serrano
000129906 700__ $$aJimenez, Marta Domínguez
000129906 700__ $$aSeidel, Veronica
000129906 700__ $$aSuárez, Julia
000129906 700__ $$aCormier-Daire, Valerie
000129906 700__ $$aConsortium, The SOGRI
000129906 700__ $$aNevado, Julián
000129906 700__ $$aLapunzina, Pablo
000129906 7102_ $$11011$$2670$$aUniversidad de Zaragoza$$bDpto. Microb.Ped.Radio.Sal.Pú.$$cÁrea Pediatría
000129906 773__ $$g14, 9 (2023), 1664 [12 pp.]$$pGenes (Basel)$$tGenes$$x2073-4425
000129906 8564_ $$s617123$$uhttps://zaguan.unizar.es/record/129906/files/texto_completo.pdf$$yVersión publicada
000129906 8564_ $$s2955485$$uhttps://zaguan.unizar.es/record/129906/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000129906 909CO $$ooai:zaguan.unizar.es:129906$$particulos$$pdriver
000129906 951__ $$a2024-11-22-12:05:17
000129906 980__ $$aARTICLE