Author:
Thijssen Peter E.,Ito Yuya,Grillo Giacomo,Wang Jun,Velasco Guillaume,Nitta Hirohisa,Unoki Motoko,Yoshihara Minako,Suyama Mikita,Sun Yu,Lemmers Richard J. L. F.,de Greef Jessica C.,Gennery Andrew,Picco Paolo,Kloeckener-Gruissem Barbara,Güngör Tayfun,Reisli Ismail,Picard Capucine,Kebaili Kamila,Roquelaure Bertrand,Iwai Tsuyako,Kondo Ikuko,Kubota Takeo,van Ostaijen-Ten Dam Monique M.,van Tol Maarten J. D.,Weemaes Corry,Francastel Claire,van der Maarel Silvère M.,Sasaki Hiroyuki
Abstract
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.
Publisher
Springer Science and Business Media LLC
Subject
General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry