Citation
- Authors: Thijssen, P. E., Ito, Y., Grillo, G., Wang, J., Velasco, G., Nitta, H., Unoki, M., Yoshihara, M., Suyama, M., Sun, Y., Lemmers, R. J., de Greef, J. C., 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, M. M., van Tol, M. J., Weemaes, C., Francastel, C., van der Maarel, S. M., Sasaki, H.
- Year: 2015
- Journal: Nat Commun 6 7870
- Applications: in vitro / siRNA / INTERFERin
- Cell type: MEF
Description: Murine embryonic fibroblast cells
Method
Two rounds of transfection with 20 nM siRNA: a first round on MEFs in suspension followed by a second round once the cells adhered to the culture plates.
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.