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Lookup NU author(s): Professor Andrew GenneryORCiD
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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.
Author(s): Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJLF, de Greef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Gungor T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJD, Weemaes C, Francastel C, van der Maarel SM, Sasaki H
Publication type: Article
Publication status: Published
Journal: Nature Communications
Year: 2015
Volume: 6
Online publication date: 28/07/2015
Acceptance date: 19/06/2015
ISSN (print): 2041-1723
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/ncomms8870
DOI: 10.1038/ncomms8870
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