Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
Nature Communications2015Vol. 6(1), pp. 7870–7870
Citations Over TimeTop 10% of 2015 papers
Peter Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Hirohisa Nitta, Motoko Unoki, Minako Yoshihara, Mikita Suyama, Yu Sun, Richard J.L.F. Lemmers, Jessica C. de Greef, Andrew R. Gennery, Paolo Picco, Barbara Kloeckener‐Gruissem, Tayfun Güngör, İsmail Reisli, Capucine Pïcard, Kamila Kébaïli, Bertrand Roquelaure, Tsuyako Iwai, Ikuko Kondo, Takeo Kubota, Monique M. van Ostaijen-ten Dam, Maarten J. D. van Tol, Corry M.R. Weemaes, Claire Francastel, Silvère M. van der Maarel, Hiroyuki Sasaki
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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