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De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Ghayda Mirzaa 1 Jessica Chong 1 Amélie Piton 2, 3 Bernt Popp 4 Kimberly Foss 5, 6 Hui Guo 7 Ricardo Harripaul 8 Kun Xia 7 Joshua Scheck 6, 9 Kimberly Aldinger 5 Samin Sajan 10 Sha Tang 11 Dominique Bonneau 12, 13 Anita Beck 14 Janson White 1 Sonal Mahida 15 Jacqueline Harris 15 Constance Smith-Hicks 15 Juliane Hoyer 16 Christiane Zweier 4 Andre Reis 16 Christian Thiel 16 Rami Abou Jamra 17 Natasha Zeid 18 Amy Yang 19 Laura Farach 20 Laurence Walsh 21 Katelyn Payne 22 Luis Rohena 23 Milen Velinov 24 Alban Ziegler 12, 13 Elise Schaefer 25, 26 Vincent Gatinois 27, 28 David Geneviève 27, 28 Marleen Simon 29 Jennefer Kohler 30 Joshua Rotenberg 31 Patricia Wheeler 32 Austin Larson 33, 34 Michelle Ernst 35, 36 Cigdem Akman 36 Rachel Westman 37 Patricia Blanchet 28 Lori-Anne Schillaci 38 Catherine Vincent-Delorme 39 Karen Gripp 40 Francesca Mattioli 41 Gwenaël Le Guyader 42 Bénédicte Gérard 43, 26 Michele Mathieu-Dramard 44 Gilles Morin 45, 46 Roksana Sasanfar 46 Muhammad Ayub 47 Nasim Vasli 41, 48 Sandra Yang 49 Rick Person 49 Kristin Monaghan 49 Deborah Nickerson 50 Ellen van Binsbergen 29 Gregory Enns 51, 52 Annika Dries 53 Leah Rowe 34 Anne Tsai 34 Shayna Svihovec 34 Jennifer Friedman 54 Zehra Agha 55 Raheel Qamar 55 Lance Rodan 56 Julian Martinez-Agosto 57 Charlotte Ockeloen 58 Marie Vincent 59 William James Sunderland 6 Jonathan Bernstein 30 Evan Eichler 6 John Vincent 60 Michael Bamshad 61
Abstract : PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). METHODS: We ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the canonical phenotype and examine genotype-phenotype relationships. RESULTS: Probands presented with ID as well as a spectrum of neurodevelopmental features including ASD, among others. All ZNF292 variants were de novo, except in one family with dominant inheritance. ZNF292 encodes a highly conserved zinc finger protein that acts as a transcription factor and is highly expressed in the developing human brain supporting its critical role in neurodevelopment. CONCLUSION: De novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. The clinical spectrum is broad, and most individuals present with mild to moderate ID with or without other syndromic features. Our results suggest that variants in ZNF292 are likely a recurrent cause of a neurodevelopmental disorder manifesting as ID with or without ASD.
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Contributeur : Nathalie Salvy-Cordoba <>
Soumis le : mercredi 15 avril 2020 - 12:20:00
Dernière modification le : jeudi 28 mai 2020 - 10:22:02

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Ghayda Mirzaa, Jessica Chong, Amélie Piton, Bernt Popp, Kimberly Foss, et al.. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩. ⟨hal-02543379⟩



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