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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0368-v1Release info

Latest

Research title

Identification and functional analysis of novel causative genes of ICF syndrome by whole genome sequencing

Research overview

Aims
ICF (immunodeficiency, centromeric instability, facial anomaly) syndrome is a rare congenital autosomal recessive genetic disorder characterized by immunodeficiency, chromosomal instability with DNA hypomethylation, and facial anomalies. Previous studies have revealed that ICF patients can be divided into four subtypes according to their causative genes (DNMT3B, ZBTB24, CDCA7, or HELLS). However, there are still a few patients whose causative genes are unknown. In this study, we identified UHRF1 as a novel causative gene in one such patient and performed whole-genome bisulfite sequencing analysis of DNA extracted from peripheral blood cells of this patient to identify a DNA hypomethylation pattern characteristic of this patient.
Methods
DNA was extracted from peripheral blood cells, and prepared libraries by the post-bisulfite adaptor-tagging (PBAT) method. Then whole genome sequencing was performed and determined the methylation status of all cytosines.
Participants/materials
ICF syndrome
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000681NGS (PBAT-seq)
  • PBAT-seq
Controlled-access (Type I)2022-12-02

Data provider

Principal investigator
Motoko Unoki
Affiliation
Division of Epigenomics and Development, Medical Institute of Bioregulation, Kyushu University

Research projects

No research projects.

Grants

NameTitleProject number
KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
Mechanisms underlying maintenance of genome integrity by DNA methylation
  • 19H05740
KAKENHI Grant-in-Aid for Scientific Research (C)
Molecular pathogenesis of ICF syndrome
  • 18K06961
KAKENHI Grant-in-Aid for Scientific Research (A)
ICF syndrome and the molecular network regulating the human epigenome
  • 26253020
Yamada Science Foundation
Novel DNA methylation maintenance mechanism for centromeric and pericentromeric repeats
N/A

Related publications

TitleDOIDataset ID
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome with distinctive genome-wide DNA hypomethylation.
https://doi.org/10.1093/hmg/ddac291 (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.