Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
Abstract
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.
- Publication:
-
Nature Communications
- Pub Date:
- July 2015
- DOI:
- 10.1038/ncomms8870
- Bibcode:
- 2015NatCo...6.7870T