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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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2015
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| 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 |
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| 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 |
| author_facet | 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 |
| author_sort | Thijssen, Peter E. |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-4519989 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2015 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-45199892015-09-04 Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome 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 Nat Commun Article 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. Nature Publishing Group 2015-07-28 /pmc/articles/PMC4519989/ /pubmed/26216346 http://dx.doi.org/10.1038/ncomms8870 Text en Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| spellingShingle | Article 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 Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome |
| title | Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome |
| title_full | Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome |
| title_fullStr | Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome |
| title_full_unstemmed | Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome |
| title_short | Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome |
| title_sort | mutations in cdca7 and hells cause immunodeficiency–centromeric instability–facial anomalies syndrome |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519989/ https://www.ncbi.nlm.nih.gov/pubmed/26216346 http://dx.doi.org/10.1038/ncomms8870 |
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