Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

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 co...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519989/
https://www.ncbi.nlm.nih.gov/pubmed/26216346
http://dx.doi.org/10.1038/ncomms8870
Descripción
Sumario: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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