A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation

Sánchez, Ana Isabel; Rojas, Juan

doi:10.1155/2017/8639617

Cited by 5 publications

(5 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Mutations in SMARCA2 causing NCBRS are heterozygous missense or in-frame deletions located within the SNF2 ATPase domain (encoded by exons 15–25; Sousa et al (2014) ( Figure 6A ). So far, 50 different missense mutations and two in-frame deletions have been identified in 62 patients ( Tsurusaki et al, 2012 ; Van Houdt et al, 2012 ; Wolff et al, 2012 ; Santen et al, 2013 ; Wieczorek et al, 2013 ; Sousa et al, 2014 ; Sánchez and Rojas, 2017 ). Wolff et al (2012) and Tsurusaki et al (2012) also identified in-frame intragenic deletions of the SMARCA2 gene (exons 20–26 and exons 20–27, respectively).…”

Section: Mutational Landscapes Of Genes Involved In Ssriddmentioning

confidence: 99%

See 1 more Smart Citation

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

Bögershausen

Wollnik

2018

Front. Mol. Neurosci.

116

122

View full text Add to dashboard Cite

Mutations in genes that encode proteins of the SWI/SNF complex, called BAF complex in mammals, cause a spectrum of disorders that ranges from syndromic intellectual disability to Coffin-Siris syndrome (CSS) to Nicolaides-Baraitser syndrome (NCBRS). While NCBRS is known to be a recognizable and restricted phenotype, caused by missense mutations in SMARCA2, the term CSS has been used lately for a more heterogeneous group of phenotypes that are caused by mutations in either of the genes ARID1B, ARID1A, ARID2, SMARCA4, SMARCB1, SMARCE1, SOX11, or DPF2. In this review, we summarize the current knowledge on the phenotypic traits and molecular causes of the above named conditions, consider the question whether a clinical distinction of the phenotypes is still adequate, and suggest the term “SWI/SNF-related intellectual disability disorders” (SSRIDDs). We will also outline important features to identify the ARID1B-related phenotype in the absence of classic CSS features, and discuss distinctive and overlapping features of the SSRIDD subtypes. Moreover, we will briefly review the function of the SWI/SNF complex in development and describe the mutational landscapes of the genes involved in SSRIDD.

show abstract

Section: Mutational Landscapes Of Genes Involved In Ssriddmentioning

confidence: 99%

“…(A) Schematic representation of SMARCA2. Mutations according to Sousa et al (2014) , Sánchez and Rojas (2017) . Protein structure according to uniprot ID P51531.…”

Section: Mutational Landscapes Of Genes Involved In Ssriddmentioning

confidence: 99%

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

Bögershausen

Wollnik

2018

Front. Mol. Neurosci.

116

122

View full text Add to dashboard Cite

show abstract

“…Our results show a significant enrichment of DMGs that are known to phenotypically affect the chin, including FIG4, AXIN2, FZD2, SMARCA2, and TBX3. These genes affect the entire skeletal system, and likely affect the chin by controlling the level of facial protrusion [18][19][20][21].…”

Section: Discussionmentioning

confidence: 99%

Predicted Archaic 3D Genome Organization Reveals Genes Related to Head and Spinal Cord Separating Modern from Archaic Humans

Batyrev

Lapid

Carmel

et al. 2019

Cells

View full text Add to dashboard Cite

High coverage sequences of archaic humans enabled the reconstruction of their DNA methylation patterns. This allowed comparing gene regulation between human groups, and linking such regulatory changes to phenotypic differences. In a previous work, a detailed comparison of DNA methylation in modern humans, archaic humans, and chimpanzees revealed 873 modern human-derived differentially methylated regions (DMRs). To understand the regulatory implications of these DMRs, we defined differentially methylated genes (DMGs) as genes that harbor DMRs in their promoter or gene body. While most of the modern human-derived DMRs could be linked to DMGs, many others remained unassigned. Here, we used information on 3D genome organization to link ~70 out of the remaining 288 unassigned DMRs to genes. Combined with the previously identified DMGs, we reinforce the enrichment of these genes with vocal and facial anatomy, and additionally find significant enrichment with the spinal column, chin, hair, and scalp. These results reveal the importance of 3D genomic organization in understanding gene regulation by DNA methylation.

show abstract

“…Loss of BAF155/BAF170, the core subunits required for the assembly, stability, and function of the BAF complex in NCCs, leads to a variety of neural crest defects, including cardiac outflow tract defects and craniofacial abnormalities by controlling expression of pathways essential for neural crest survival, migration, proliferation and differentiation (Bi‐Lin et al, 2021). Though their functions are currently less defined, new evidence suggests different members of the SWI/SNF complex that can bind and read chromatin, SMARCA2, SMARCB1, and SMARCE1 control neural crest formation and differentiation of different craniofacial structures (Diets et al, 2019; Kosho, Okamoto, et al, 2014; Sanchez & Rojas, 2017; Sousa et al, 2014; Tang et al, 2017; Van Houdt et al, 2012; Vitte et al, 2017; Yano et al, 2018).…”

Section: Large Protein Complexes Influence Chromatin Structure: Atp‐d...mentioning

confidence: 99%

Epigenetic regulation of craniofacial development and disease

Shull,

Artinger

2023

Birth Defects Research

View full text Add to dashboard Cite

BackgroundThe formation of the craniofacial complex relies on proper neural crest development. The gene regulatory networks (GRNs) and signaling pathways orchestrating this process have been extensively studied. These GRNs and signaling cascades are tightly regulated as alterations to any stage of neural crest development can lead to common congenital birth defects, including multiple syndromes affecting facial morphology as well as nonsyndromic facial defects, such as cleft lip with or without cleft palate. Epigenetic factors add a hierarchy to the regulation of transcriptional networks and influence the spatiotemporal activation or repression of specific gene regulatory cascades; however less is known about their exact mechanisms in controlling precise gene regulation.AimsIn this review, we discuss the role of epigenetic factors during neural crest development, specifically during craniofacial development and how compromised activities of these regulators contribute to congenital defects that affect the craniofacial complex.

show abstract

A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype Correlation

Cited by 5 publications

References 15 publications

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Related Intellectual Disability Disorders

Predicted Archaic 3D Genome Organization Reveals Genes Related to Head and Spinal Cord Separating Modern from Archaic Humans

Epigenetic regulation of craniofacial development and disease

Contact Info

Product

Resources

About