[HTML][HTML] Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

PE Thijssen, Y Ito, G Grillo, J Wang, G Velasco… - Nature …, 2015 - nature.com
PE Thijssen, Y Ito, G Grillo, J Wang, G Velasco, H Nitta, M Unoki, M Yoshihara, M Suyama…
Nature communications, 2015nature.com
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; …
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.
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