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Other mutation studies show the abrogation of CTCF binding at only select DNA binding sites, not all, supporting the idea that mutations in CTCF can result in a gain or change of function (Filippova et al., 2002). This remains to be explored with respect to genome-wide binding, chromatin structure and gene regulation.

Bastaki F, Nair P, Mohamed M, et al. Identification of a novel CTCF mutation responsible for syndromic intellectual disability—a case report. BMC Med Genet. 2017;18:68.

Sequence chromatograms showing the novel CTCF frameshift mutation in a heterozygous state in the patient; Panel (a).Both parents were found to harbor wild type CTCF; Panels (b) and (c), in which the AAAG that is deleted by the mutation is highlighted. Discussion and conclusions. The global regulatory role of CTCF in organizing chromatin structure explains the increasing number of studies that ...

Schematic of CTCF functional domains and CTCF variant distribution and characteristics. All analyzed CTCF variants (107 subjects and 70 variants). Variants are plotted based on the CTCF isoform amino acid position (Uniprot identifier P49711, RefSeq mRNA ID: NM_006565.4) and colored based on whether they are novel (red) or previously reported (blue).A # indicates a variant of unknown clinical ...

Bastaki, F. et al. Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report. BMC Med. Genet. 18 , 68 (2017). Article PubMed PubMed Central Google ...

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 ...

Shared clinical features in all three individuals with de novo mutations in CTCF comprised ID of variable severity (with I3 being most severely affected), head circumference and/or body height either in the low normal range or below –2 standard deviations, and feeding difficulties (Figure 1, Table 1).

Background Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by mutations in CCCTC-binding factor (CTCF) and this was established through only four unrelated cases, two of which had frameshift mutations. CTCF is a master ...

Other mutation studies show the abrogation of CTCF binding at only select DNA binding sites, not all, supporting the idea that mutations in CTCF can result in a gain or change of function (Filippova et al., 2002). This remains to be explored with respect to genome-wide binding, chromatin structure and gene regulation.

Identification of a novel CTCF mutation responsible for syndromic intellectual disability—a case report. 10.1186/s12881-017-0429-0. BMC Med Genet. 2017; 18. Google Scholar. 9.

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 ...

Identification of CTCF as a master regulator of the clustered protocadherin genes: Golan-Mashiach M , et al. (2012) No-3: Recent Recommendation: De novo mutations in the genome organizer CTCF cause intellectual disability: Gregor A , et al. (2013) No: DD: 4: Recent Recommendation: Role of CTCF protein in regulating FMR1 locus transcription

Mutations of CTCF coding sequence in cancer and their functional role in oncogenesis. The DNA sequence encoding CTCF was first shown to be affected in breast and prostate tumours (Filippova et al, 1998). The analysis of several large Pan Cancer data sets including the TCGA data revealed a whole spectrum of CTCF mutations including deletions ...

Identification of a novel CTCF mutation responsible for syndromic intellectual disability—a case report. 10.1186/s12881-017-0429-0. BMC Med Genet, 18 (2017) Google Scholar. 9. F. Chen, H. Yuan, W. Wu, et al. Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder.

Developmental delay (DD) and intellectual disability (ID) represent one of the biggest medical and social challenges in our society with a prevalence of 1 ~ 3% worldwide. Currently, at least 50% of DD/ID cases remained unexplained. Mental retardation, autosomal dominant 21 (MRD21), caused by mutations in CTCF, is a rare DD/ID-related disease ...

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.

Background: Autosomal dominant mental retardation 21 (MRD21) is a very rare condition, characterized by short stature, microcephaly, mild facial dysmorphisms and intellectual disability that ranged from mild to severe. MRD21 is caused by mutations in CCCTC-binding factor (CTCF) and this was established through only four unrelated cases, two of which had frameshift mutations.

Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report BMC Med Genet , 18 ( 1 ) ( 2017 ) , p. 68 , 10.1186/s12881-017-0429-0

Accurate identification of chromatin loops is essential for understanding the regulatory mechanisms in disease. ... mutations in enhancer elements that affect their looping interactions with target gene promoters have been linked to developmental disorders. ... CTCF recognizes and binds to specific DNA sequences, with a consensus motif ...

Heterozygous mutations in CTCF (OMIM# 604167) have been shown to cause the NDD mental retardation, autosomal dominant 21 (MRD21), which is characterised by variable levels of ID, microcephaly, and ...