Journal
NATURE COMMUNICATIONS
Volume 6, Issue -, Pages -Publisher
NATURE PORTFOLIO
DOI: 10.1038/ncomms8870
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Funding
- KAKENHI [22134006, 23249019, 26253020]
- National Institutes of Health/National Institute of Allergy and Infectious Diseases [R21 AI090135]
- European Community [2012-305121]
- French National Research Agency-Program on physiopathology of rare diseases [ANR-09-GENO-035]
- Grants-in-Aid for Scientific Research [23249019, 26253020] Funding Source: KAKEN
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The life-threatening Immunodeficiency, Centromeric Instability and Facial Anomalies (ICF) syndrome is a genetically heterogeneous autosomal recessive disorder. Twenty percent of patients cannot be explained by mutations in the known ICF genes DNA methyltransferase 3B or zinc-finger and BTB domain containing 24. Here we report mutations in the cell division cycle associated 7 and the helicase, lymphoid-specific genes in 10 unexplained ICF cases. Our data highlight the genetic heterogeneity of ICF syndrome; however, they provide evidence that all genes act in common or converging pathways leading to the ICF phenotype.
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