The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.

Autor: Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Truijen KMG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., van de Ven S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Bernier R; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA., Bongers EMHF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Bouman A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., de Graaff-Herder L; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Eichler EE; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., De Geus CM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., van Hagen JM; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Boelelaan 1117, Amsterdam, The Netherlands., Jansen PR; Department of Human Genetics, Amsterdam UMC location Vrije Universiteit Amsterdam, Boelelaan 1117, Amsterdam, The Netherlands.; Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, the Netherlands., Kerkhof J; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., Maas SM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., McConkey H; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada., Patterson WG; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Dobson AT; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Sadikovic B; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A3K7, Canada., Relator R; 1Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, N6A 5W9, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, N6A3K7, Canada., Stevenson RE; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Stumpel CTRM; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, Netherlands., Heijligers M; Department of Clinical Genetics, MUMC, Maastricht, The Netherlands., Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Löhner K; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Zeidler S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Lee JA; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Lindy A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Zou F; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA., Tedder ML; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, the Netherlands. Bert.deVries@radboudumc.nl.

Publikováno v: Translational psychiatry [Transl Psychiatry] 2022 Oct 01; Vol. 12 (1), pp. 421. Date of Electronic Publication: 2022 Oct 01.

The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8

Autor: Alexander J. M. Dingemans, Kim M. G. Truijen, Sam van de Ven, Raphael Bernier, Ernie M. H. F. Bongers, Arjan Bouman, Laura de Graaff – Herder, Evan E. Eichler, Erica H. Gerkes, Christa M. De Geus, Johanna M. van Hagen, Philip R. Jansen, Jennifer Kerkhof, Anneke J. A. Kievit, Tjitske Kleefstra, Saskia M. Maas, Stella A. de Man, Haley McConkey, Wesley G. Patterson, Amy T. Dobson, Eloise J. Prijoles, Bekim Sadikovic, Raissa Relator, Roger E. Stevenson, Connie T. R. M. Stumpel, Malou Heijligers, Kyra E. Stuurman, Katharina Löhner, Shimriet Zeidler, Jennifer A. Lee, Amanda Lindy, Fanggeng Zou, Matthew L. Tedder, Lisenka E. L. M. Vissers, Bert B. A. de Vries

Publikováno v: Translational psychiatry, 12(1):421
Dingemans, A J M, Truijen, K M G, van de Ven, S, Bernier, R, Bongers, E M H F, Bouman, A, de Graaff – Herder, L, Eichler, E E, Gerkes, E H, De Geus, C M, van Hagen, J M, Jansen, P R, Kerkhof, J, Kievit, A J A, Kleefstra, T, Maas, S M, de Man, S A, McConkey, H, Patterson, W G, Dobson, A T, Prijoles, E J, Sadikovic, B, Relator, R, Stevenson, R E, Stumpel, C T R M, Heijligers, M, Stuurman, K E, Löhner, K, Zeidler, S, Lee, J A, Lindy, A, Zou, F, Tedder, M L, Vissers, L E L M & de Vries, B B A 2022, ' The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 ', Translational Psychiatry, vol. 12, 421, pp. 1-11 . https://doi.org/10.1038/s41398-022-02189-1
Translational Psychiatry, 12:421, 1-11. Nature Publishing Group
Translational Psychiatry, 12(1):421. Nature Publishing Group
Dingemans, A J M, Truijen, K M G, van de Ven, S, Bernier, R, Bongers, E M H F, Bouman, A, de Graaff – Herder, L, Eichler, E E, Gerkes, E H, de Geus, C M, van Hagen, J M, Jansen, P R, Kerkhof, J, Kievit, A J A, Kleefstra, T, Maas, S M, de Man, S A, McConkey, H, Patterson, W G, Dobson, A T, Prijoles, E J, Sadikovic, B, Relator, R, Stevenson, R E, Stumpel, C T R M, Heijligers, M, Stuurman, K E, Löhner, K, Zeidler, S, Lee, J A, Lindy, A, Zou, F, Tedder, M L, Vissers, L E L M & de Vries, B B A 2022, ' The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8 ', Translational psychiatry, vol. 12, no. 1, 421 . https://doi.org/10.1038/s41398-022-02189-1
Translational Psychiatry, 12, 1
Translational Psychiatry, 12
Translational psychiatry, 12(1):421. Nature Publishing Group

CHD8, a major autism gene, functions in chromatin remodelling and has various roles involving several biological pathways. Therefore, unsurprisingly, previous studies have shown that intellectual developmental disorder with autism and macrocephaly (I

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