Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
- Journal Article
Rights / licenseCreative Commons Attribution 4.0 International
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. Show more
Journal / seriesNature Communications
Pages / Article No.
PublisherNature Publishing Group
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