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Article

CTCF deletion syndrome: clinical features and epigenetic delineation.

Journal of medical genetics - 1 Dec 2017

Hori Ikumi, Kawamura Rie, Nakabayashi Kazuhiko, Watanabe Hidetaka, Higashimoto Ken, Tomikawa Junko, Ieda Daisuke, Ohashi Kei, Negishi Yutaka, Hattori Ayako, Sugio Yoshitsugu, Wakui Keiko, Hata Kenichiro, Soejima Hidenobu, Kurosawa Kenji, Saitoh Shinji

Abstract excerpt

BACKGROUND: Heterozygous mutations in CTCF have been reported in patients with distinct clinical features including intellectual disability. However, the precise pathomechanism underlying the phenotype remains to be uncovered, partly because of the diverse function of CTCF. Here we describe extensive clinical and genetic investigation for two patients with a microdeletion encompassing CTCF. METHODS: We performed...

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Topics

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Share to CCCTC-Binding Factor
Share to Comparative Genomic Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epigenesis, Genetic

Share to Facies

Share to Haploinsufficiency

Share to In Situ Hybridization, Fluorescence

Share to Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization

Share to X Chromosome Inactivation

Source

Identifiers

PMID: 28848059
DOI: 10.1136/jmedgenet-2017-104854

Genes

CTCF
FGFR2
PRKCZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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CTCF deletion syndrome: clinical features and epigenetic delineation.PMID 28848059Read ↗

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