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Article

Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients.

Journal of human genetics - 1 Jul 2013

Nitta Hirohisa, Unoki Motoko, Ichiyanagi Kenji, Kosho Tomoki, Shigemura Tomonari, Takahashi Hiroshi, Velasco Guillaume, Francastel Claire, Picard Capucine, Kubota Takeo, Sasaki Hiroyuki

Abstract excerpt

Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder that shows DNA hypomethylation at pericentromeric satellite-2 and -3 repeats in chromosomes 1, 9 and 16. ICF syndrome is classified into two groups: type 1 (ICF1) patients have mutations in the DNMT3B gene and about half of type 2 (ICF2) patients have mutations in the ZBTB24 gene. Besides...

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Source

Identifiers

PMID: 23739126
DOI: 10.1038/jhg.2013.56

Genes

ZBTB24

Variants

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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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