Article
Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.
American journal of human genetics - 10 Jun 2011
de Greef Jessica C, Wang Jun, Balog Judit, den Dunnen Johan T, Frants Rune R, Straasheijm Kirsten R, Aytekin Caner, van der Burg Mirjam, Duprez Laurence, Ferster Alina, Gennery Andrew R, Gimelli Giorgio, Reisli Ismail, Schuetz Catharina, Schulz Ansgar, Smeets Dominique F C M, Sznajer Yves, Wijmenga Cisca, van Eggermond Marja C, van Ostaijen-Ten Dam Monique M, Lankester Arjan C, van Tol Maarten J D, van den Elsen Peter J, Weemaes Corry M, van der Maarel Silvère M
Abstract excerpt
Autosomal-recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is mainly characterized by recurrent, often fatal, respiratory and gastrointestinal infections. About 50% of patients carry mutations in the DNA methyltransferase 3B gene (DNMT3B) (ICF1). The remaining patients carry unknown genetic defects (ICF2) but share with ICF1 patients the same immunological and epigenetic...
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