An updated catalog of CTCF variants associated with neurodevelopmental ...
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.
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. In recent years, due to the increased application of next-generation sequencing (NGS), growing numbers of CTCF variants are being ...
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CTCF variants in 39 individuals with a variable neurodevelopmental ...
Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Through international collaboration we collected data ...
Expansion of the genotypic and phenotypic spectrum of CTCF-related ...
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.
Gene: CTCF
Konrad et al., 2019 found that 39 individuals with CTCF variants presented with a variable neurodevelopmental disorder frequently characterized by feeding difficulties/failure to thrive, developmental delay/intellectual disability, and behavioral abnormalities, including autism and autistic features.
An updated catalog of CTCF variants associated with ... - 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. In recent years, due to the increased application of next-generation sequencing (NGS), growing numbers of CTCF variants are being ...
CTCF variants in 39 individuals with a variable neurodevelopmental ...
Abstract Purpose. Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD).. Methods. Through international collaboration we collected data from 39 subjects with variants in CTCF.We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf ...
CTCF variant begets to short stature by down-regulation of IGF1
Pathogenic variants in the transcription factor CCCTC-binding factor (CTCF) are associated with mental retardation, autosomal dominant 21 (MRD21, MIM#615502).Current studies supported the strong relationship between CTCF variants and growth, yet the mechanism of CTCF mutation leading to short stature is not known. Clinical information, treatment regimens, and follow-up outcomes of a patient ...
Frontiers | An updated catalog of CTCF variants associated with ...
3. Results 3.1. Generation of CTCF variant dataset 3.1.1. Systematic review did not yield any new CTCF variants. To provide a comprehensive catalog of CTCF variants associated with NDD phenotypes, a systematic review was first conducted to identify all CTCF variants discovered in probands with diagnosed NDDs. The literature search yielded 1,286 article records ().
Expansion of the genotypic and phenotypic spectrum of CTCF-related ...
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 ...
CTCF variants in 39 individuals with a variable neurodevelopmental ...
Purpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Methods: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage ...
CTCF variants in 39 individuals with a variable neurodevelopmental ...
Fig. 1 Variants identified in CTCF. 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 ...
(PDF) An updated catalog of CTCF variants associated with ...
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.
Expansion of the genotypic and phenotypic spectrum of CTCF-related ...
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.
CTCF variants in 39 individuals with a variable neurodevelopmental ...
Variants identified inCTCF. 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 ...
CTCF variant begets to short stature by down-regulation of IGF1
Abstract. Pathogenic variants in the transcription factor CCCTC-binding factor (CTCF) are associated with mental retardation, autosomal dominant 21 (MRD21, MIM#615502).Current studies supported the strong relationship between CTCF variants and growth, yet the mechanism of CTCF mutation leading to short stature is not known. Clinical information, treatment regimens, and follow-up outcomes of a ...
CTCF as a regulator of alternative splicing: new tricks for an old ...
These studies demonstrated that enrichment of CTCF binding sites is detected around nucleosomes associated with histone variants H2A.Z and H3.3 and multiple histone modifications. The co-localization of CTCF with these histone variants and modifications marks the boundaries of histone methylation domains and was linked to chromatin-mediated ...
A disease-specific convergence of host and Epstein–Barr virus ... - PNAS
GWAS variants associated with SLE were pooled from SPOKE (https://spoke.cgl.ucsf.edu/; DOID:9074). EBNA2 binding sites were extracted from a ChIP-Seq performed on GM12878 EBV-transformed LCLs by Hong et al. . CTCF binding sites and POLR2A binding sites were extracted from ChIP-Seq data by Puig et al. .].
(PDF) CTCF variants in 39 individuals with a variable ...
Facial gestalt of individuals with pathogenic variants in CTCF. Note minor facial dysmorphism such as a long face (e.g., I5, I8, I11, I27), a prominent forehead (e.g., I4, I8, I18, I33, I35) or a ...
CTCF variants in 39 individuals with a variable neurodevelopmental ...
Variants identified in CTCF. 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 ...
Expanding the mutational and clinical spectrum of Chinese intellectual ...
The c.1838_1852del variant in the CTCF gene leads to a partial deletion of exon 11 in the CTCF mRNA. The deletion leads to the loss of 5 amino acids in a highly conserved region but does not impact the zinc-finger domain. Overall, the c. 1838_1852del variant in the CTCF gene may contribute to the patient 2's phenotype. Additional research and ...