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

Peter E. Thijssen; Yuya Ito; Giacomo Grillo; Jun Wang; Guillaume Velasco; Hirohisa Nitta; Motoko Unoki; Minako Yoshihara; Mikita Suyama; Yu Sun; Richard J.L.F. Lemmers; Jessica C. De Greef; Andrew Gennery; Paolo Picco; Barbara Kloeckener-Gruissem; Tayfun Güngör; Ismail Reisli; Capucine Picard; Kamila Kebaili; Bertrand Roquelaure; Tsuyako Iwai; Ikuko Kondo; Takeo Kubota; Monique M. Van Ostaijen-Ten Dam; Maarten J.D. Van Tol; Corry Weemaes; Claire Francastel; Silvère M. Van Der Maarel; Hiroyuki Sasaki

doi:10.1038/ncomms8870

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

Peter E. Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Hirohisa Nitta, Motoko Unoki, Minako Yoshihara, Mikita Suyama, Yu Sun, Richard J.L.F. Lemmers, Jessica C. De Greef, Andrew Gennery, Paolo Picco, Barbara Kloeckener-Gruissem, Tayfun Güngör, Ismail Reisli, Capucine Picard, Kamila Kebaili, Bertrand RoquelaureTsuyako Iwai, Ikuko Kondo, Takeo Kubota, Monique M. Van Ostaijen-Ten Dam, Maarten J.D. Van Tol, Corry Weemaes, Claire Francastel, Silvère M. Van Der Maarel, Hiroyuki Sasaki

Research output: Contribution to journal › Article › peer-review

115 Citations (Scopus)

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.

Original language	English
Article number	7870
Journal	Nature communications
Volume	6
DOIs	https://doi.org/10.1038/ncomms8870
Publication status	Published - Jul 28 2015

All Science Journal Classification (ASJC) codes

Chemistry(all)
Biochemistry, Genetics and Molecular Biology(all)
Physics and Astronomy(all)

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10.1038/ncomms8870

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Thijssen, P. E., Ito, Y., Grillo, G., Wang, J., Velasco, G., Nitta, H., Unoki, M., Yoshihara, M., Suyama, M., Sun, Y., Lemmers, R. J. L. F., De Greef, J. C., Gennery, A., Picco, P., Kloeckener-Gruissem, B., Güngör, T., Reisli, I., Picard, C., Kebaili, K., ... Sasaki, H. (2015). Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. Nature communications, 6, Article 7870. https://doi.org/10.1038/ncomms8870

Thijssen, PE, Ito, Y, Grillo, G, Wang, J, Velasco, G, Nitta, H, Unoki, M, Yoshihara, M, Suyama, M, Sun, Y, Lemmers, RJLF, De Greef, JC, Gennery, A, Picco, P, Kloeckener-Gruissem, B, Güngör, T, Reisli, I, Picard, C, Kebaili, K, Roquelaure, B, Iwai, T, Kondo, I, Kubota, T, Van Ostaijen-Ten Dam, MM, Van Tol, MJD, Weemaes, C, Francastel, C, Van Der Maarel, SM & Sasaki, H 2015, 'Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome', Nature communications, vol. 6, 7870. https://doi.org/10.1038/ncomms8870

@article{8d6388f2183948e0816758f2578c5a2e,

title = "Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome",

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.",

author = "Thijssen, {Peter E.} and Yuya Ito and Giacomo Grillo and Jun Wang and Guillaume Velasco and Hirohisa Nitta and Motoko Unoki and Minako Yoshihara and Mikita Suyama and Yu Sun and Lemmers, {Richard J.L.F.} and {De Greef}, {Jessica C.} and Andrew Gennery and Paolo Picco and Barbara Kloeckener-Gruissem and Tayfun G{\"u}ng{\"o}r and Ismail Reisli and Capucine Picard and Kamila Kebaili and Bertrand Roquelaure and Tsuyako Iwai and Ikuko Kondo and Takeo Kubota and {Van Ostaijen-Ten Dam}, {Monique M.} and {Van Tol}, {Maarten J.D.} and Corry Weemaes and Claire Francastel and {Van Der Maarel}, {Silv{\`e}re M.} and Hiroyuki Sasaki",

note = "Funding Information: We thank all patients and their families for their consent to contribute to our study. We thank K. Ichiyanagi and L. Daxinger for helpful advice, staff of the Kyushu University International Legal Office for help in legal and ethical affairs, and T.P. Pham, S.L. H{\"o}cker, M. Miyake and H. Furuumi for technical assistance. This work was supported by KAKENHI (22134006, 23249019 and 26253020), the National Institutes of Health/National Institute of Allergy and Infectious Diseases (R21 AI090135), European Community{\textquoteright}s Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 2012-305121 {\textquoteleft}Integrated European—omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS){\textquoteright} and French National Research Agency—Program on physiopathology of rare diseases (ANR-09-GENO-035). Publisher Copyright: {\textcopyright} 2015 Macmillan Publishers Limited. All rights reserved.",

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doi = "10.1038/ncomms8870",

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journal = "Nature communications",

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T1 - Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome

AU - Thijssen, Peter E.

AU - Ito, Yuya

AU - Grillo, Giacomo

AU - Wang, Jun

AU - Velasco, Guillaume

AU - Nitta, Hirohisa

AU - Unoki, Motoko

AU - Yoshihara, Minako

AU - Suyama, Mikita

AU - Sun, Yu

AU - Lemmers, Richard J.L.F.

AU - De Greef, Jessica C.

AU - Gennery, Andrew

AU - Picco, Paolo

AU - Kloeckener-Gruissem, Barbara

AU - Güngör, Tayfun

AU - Reisli, Ismail

AU - Picard, Capucine

AU - Kebaili, Kamila

AU - Roquelaure, Bertrand

AU - Iwai, Tsuyako

AU - Kondo, Ikuko

AU - Kubota, Takeo

AU - Van Ostaijen-Ten Dam, Monique M.

AU - Van Tol, Maarten J.D.

AU - Weemaes, Corry

AU - Francastel, Claire

AU - Van Der Maarel, Silvère M.

AU - Sasaki, Hiroyuki

N1 - Funding Information: We thank all patients and their families for their consent to contribute to our study. We thank K. Ichiyanagi and L. Daxinger for helpful advice, staff of the Kyushu University International Legal Office for help in legal and ethical affairs, and T.P. Pham, S.L. Höcker, M. Miyake and H. Furuumi for technical assistance. This work was supported by KAKENHI (22134006, 23249019 and 26253020), the National Institutes of Health/National Institute of Allergy and Infectious Diseases (R21 AI090135), European Community’s Seventh Framework Programme (FP7/2007-2013) under grant agreement no. 2012-305121 ‘Integrated European—omics research project for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases (NEUROMICS)’ and French National Research Agency—Program on physiopathology of rare diseases (ANR-09-GENO-035). Publisher Copyright: © 2015 Macmillan Publishers Limited. All rights reserved.

PY - 2015/7/28

Y1 - 2015/7/28

N2 - 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.

AB - 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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JO - Nature communications

JF - Nature communications

M1 - 7870

ER -

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

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