WebThis striking association is also reflected on the higher incidence level of cancer-related somatic mutations occurring at CTCF/cohesin ... gastroesophageal dysfunction, growth retardation and neurodevelopmental delay . The etiology of up to 65% of the cases can be attributed to mutations on NIPBL, or on the two cohesin subunits SMC1A and SMC3 ... WebCTCF - CCCTC-binding factor. Synonym(s) : 11 zinc finger transcriptional repressor, CFAP108, FAP108; ... Disease-causing germline mutation(s) in CTCF-related neurodevelopmental disorder: ORPHA:363611 : Assessed. Additional information Patient-centred resources for this gene. Diagnostic tests (20)

10664 - Gene ResultCTCF CCCTC-binding factor [ (human)]

WebMar 20, 2024 · CCCTC‐binding factor (CTCF) is an important regulator for global genomic organization and gene expression. CTCF gene had been implicated in a novel disorder characterized by intellectual disability, feeding difficulty, developmental delay and microcephaly. So far, four patients have been reported with de novo CTCF mutations. WebPurpose: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). Methods: Through … simple modern summit bottles

What Are Neurodevelopmental Disorders? - Verywell Mind

WebJun 26, 2024 · We now report on 39 additional individuals with variants in CTCF, further delineating the mutational and clinical spectrum of CTCF … WebApr 4, 2024 · CCCTC-binding factor (CTCF) is a regulator of chromatin organization and has direct effects on gene transcription. Mutations in CTCF have been identified in individuals with neurodevelopmental conditions. There are wide range of behaviors associated with these mutations, including intellectual disabilities, changes in temperament, and autism. … WebMonoallelic variants of CTCF cause an autosomal dominant neurodevelopmental disorder with a wide range of features, including impacts on the brain, growth, and craniofacial … simple modern standard can cooler