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Sofia Douzgou Houge

As seen in: Nature, Frontiers, The American Journal of Human Genetics, Tidsskrift
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Articles by Sofia Douzgou Houge

An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants

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By Molly Godfrey, Michael Levy, Christopher Campbell, Leigh A.M. Demain, Sarah Jenkinson, Sarah Hilton Verified, Berta Almoguera, Meena Balasubramanian, Emilia K. Bijlsma, Fiona Blanco-Kelly, Emma Wright, Gerarda Cappuccio, Kate Chandler, Koen Devriendt, Maria K. Haanpää, Elizabeth Jones, Sinem Kocagil, Dhanya Lakshmi Narayanan, Emanuela Leonardi, Rajesh Madhu, Purvi Majethia, Alessandra Murgia, Elisabeth Rosser, Markus Schuelke, Anju Shukla, Sarah Stewart, Yves Sznajer, Saoud Tahsin Swafiri, Renzo Guerrini, Annalisa Vetro, Thomas Wright, David Gokhale, Bekim Sadikovic, Sofia Douzgou Houge, Siddharth Banka, Aranzazu Diaz de Bustamante, Carolin Hörnig, Hannele Koillinen, Emma Soengas-Gonda, Maria Margarida Venancio, Martino Montomoli
| Nature Verified
Abstract Pathogenic CHD8 variants cause autosomal dominant ‘Intellectual developmental disorder with autism and macrocephaly’ (IDDAM) and are amongst the most common monogenic causes of autism. The clinical significance of CHD8 missense variants (MVs) frequently remains uncertain. Systematically applying ACGS/ACMG guidelines to 36 CHD8 MVs in 39 affected patients, only two variants were classified likely pathogenic (LP), with the remaining 34 classified variants of uncertain significance (VUS).
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Houge-Janssens syndrome - European Journal of Human Genetics

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By Gunnar Houge, Sofia Douzgou Houge, Tzung-Chien Hsieh, Iris Verbinnen
| Nature Verified
Abstract Houge-Janssens syndrome (HJS) is caused by protein phosphatase type 2A (PP2A) dysfunction. The core features are neurodevelopmental delay, especially concerning language, prolonged hypotonia, high risk of seizures, and behavior problems. PP2A oppose the activity of serine/threonine protein kinases, including growth promoting kinases of the PIK3CA/AKT/mTOR and RAS/MAPK pathways.
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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

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By Iris Verbinnen, Sofia Douzgou Houge, Tzung-Chien Hsieh, Hellen Lesmann, Aron Kirchhoff, David Geneviève, Elise Brimble, Dorien Haesen, Julien Thevenon, Laurence Faivre, Elysa J. Marco, Jessica X. Chong, Karynne Patterson, Ghayda M. Mirzaa, Kimberly Foss, William B. Dobyns, Susan White, Lynn Pais, Emily O’Heir, Kirsten A Donald, Alessandro Mussa, Elisa Giorgio, Tony Roscioli, Kerith-Rae Dias, Natasha Brown Verified, Anna Ruiz, Rachel A. Rabin, John Pappas, Hai Yuan, Katherine Lachlan, Simon Thomas Verified, Anita Devlin, Michael Wright Verified, Richard Martin, Renata Posmyk, Nicolas Chatron, Zornitza Stark, Oliver Heath, Martin B. Delatycki, Rebecca Buchert, Keri Ramsey, Vinodh Narayanan, Dorothy K. Grange, Tobias B. Haack, Patricia Kipkemoi, Tahsin Stefan Barakat, Derek H. Lim, Geraldine van Winckel, Rebecca C. Spillmann, Vandana Shashi, Maureen Jacob, Antonia M. Stehr, Peter Krawitz, Gunnar Houge, Veerle Janssens, Lisa Lenaerts, Mike Bamshad, Raphaela Itzikowitz, Raffaela Cervini, Carey-Anne Evans, Joanna Karwowska, Georg-Christoph Korenke, Judith L. Weisenberg, Stephanie Karch, Moses Mangi
| The American Journal of Human Genetics Verified
1Laboratory of Protein Phosphorylation and Proteomics, KU Leuven Department of Cellular and Molecular Medicine, University of Leuven, Leuven, Belgium 2KU Leuven Institute for Rare Diseases (Leuven.IRD), Leuven, Belgium 3Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway 4Department of Clinical Science, University of Bergen, Bergen, Norway 5Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn,...
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Personalised medicine for developmental disorders

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By Sissel Berge Helverschou, Torild Skrivarhaug, Sofia Douzgou Houge, Kristin Andersen Bakke
| Tidsskrift
Article Genetic testing alone is not sufficient to provide personalised treatment for people with developmental disorders. Personalised medicine refers to a type of medical care in which treatments are tailored to the biological characteristics of the individual patient. This is not a new concept; however, modern gene sequencing technologies have provided new opportunities for diagnostic practice and individualised care.
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Identifying the genetic causes of developmental disorders and intellectual disability in Africa: a systematic literature review

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By Muhammad Hassan, Saumya S. Jamuar, Sofia Douzgou Houge
| Frontiers
Fiona Baine-Savanhu1, Shelley Macaulay1, Nadja Louw1, Alanna Bollweg1, Kaitlyn Flynn1, Mhlekazi Molatoli1, Patracia Nevondwe1, Heather Seymour1, Nadia Carstens1,2, Amanda Krause1 and Zané Lombard1*for DDD-Africa as members of the H3Africa Consortium 1Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa 2Genomics Platform, South African Medical Research Council, Cape Town,...
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