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Abstract Introduction. CTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants in CTCF.The first CTCF variants in CRD cases were documented in 2013. To date, 76 CTCF variants have been further described in the literature. In recent years, due to the increased application of next-generation sequencing (NGS), growing numbers of CTCF variants ...

Abstract. Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. A growing number of subjects with CTCF-related disorder (CRD) have been identified due to the increased application of exome sequencing, and further delineation of the clinical spectrum of CRD is needed.

Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Through international collaboration we collected data ...

To comprehensively assess the CTCF U motif, clustering analysis was performed using the upstream sequences of all downregulated CTCF sites in three tissues, revealing seven types of upstream ...

Introduction: CTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants in CTCF.The first CTCF variants in CRD cases were documented in 2013. To date, 76 CTCF variants have been further described in the literature. In recent years, due to the increased application of next-generation sequencing (NGS), growing numbers of CTCF variants are being ...

Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. A growing number of subjects with CTCF-related disorder (CRD) have been identified due to the increased application of exome sequencing, and further delineation ...

The CTCF gene consists of 12 exons that encode eleven zinc finger (ZF) domains. Numerous studies have identified to date 59 pathogenic variants in the CTCF gene associated with autosomal dominant ...

Variant calling was performed with the LifeScope software v.2.5 with high stringency settings and GATK v.1.4 8 after local realignment of indels. Only variants called by LifeScope with high stringency settings and by GATK were selected. ... No convincing truncating mutations or copy-number variants in CTCF were observed in dbSNP 135, 1000 ...

Chakraborty et al. studied the role of chromatin structure in the regulation of three FGF genes. Mice with a single CTCF motif deletion in heterozygosity died perinatally with severe phenotypes, showing that even small sequence variants at domain boundaries must be considered as potential sources of gene dysregulation during development and disease.

Patients and patient material. Personal communication with colleagues following the initial report, 7 searching the DECIPHER database, 14,15 and using GeneMatcher 16 enabled us to collect clinical and mutational details on 39 individuals with variants in CTCF.Testing (for individual methods see Table S1) in collaborating centers was performed either in the setting of routine diagnostic testing ...

CTCF orchestrates genome-wide insulations of chromatin states via higher order chromatin organization ... which has been limited due to limited availability of allelic variants in the coding regions of the genes, ... random monoallelic gene expression in mammalian cells. Science. 2014; 343:193-196. Crossref. Scopus (912) PubMed.

Introduction: CTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants in CTCF. The first CTCF variants in CRD cases were documented in 2013. To date, 76 CTCF variants have been further described in the literature.

Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. A growing number of subjects with CTCF-related disorder (CRD) have been identified due to the increased application of exome sequencing, and further delineation of the clinical spectrum of CRD is needed.

The key to all other parental allele-specific features at the H19-Igf2 imprinted domain is the paternal-specific methylation of the ICR, because this determines monoallelic CTCF binding, and in turn CTCF binding determines monoallelic gene expression and maintenance of the polarized epigenetic features. It is important, therefore, to review ...

Introduction CTCF-related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants in CTCF.The first CTCF variants in CRD cases were documented in 2013. To date, 76 CTCF variants have been further described in the literature. In recent years, due to the increased application of next-generation sequencing (NGS), growing numbers of CTCF variants are being ...

The most common cause of DFNB16 is a homozygous large contiguous gene deletion at 15q15.3, but other copy number variants (CNVs), including both losses and gains, have been less well characterized.

Introduction CTCF -related disorder (CRD) is a neurodevelopmental disorder (NDD) caused by monoallelic pathogenic variants in CTCF . The first CTCF variants in CRD cases were documented in 2013.

Abstract Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial development. A ...

a Schematic drawing of the CTCF gene with known and novel variants. Noncoding exons are displayed in light gray, coding exons in medium gray, and exons encoding zinc fingers in dark gray. b Schematic drawing of the CTCF protein. Missense or in-frame variants are displayed above and likely gene-disruptive variants below the scheme.

The findings expanded the genotypic and phenotypic spectrum of CRD that will guide genetic counseling, management, and surveillance care for patients with CRD and a newly built facial gestalt on the Face2Gene tool will facilitate prompt recognition ofCRD by physicians and shorten a patient's diagnostic odyssey. Monoallelic variants of CTCF cause an autosomal dominant neurodevelopmental ...