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Article Dans Une Revue Genetics in Medicine Année : 2020

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

Ghayda M. 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 J. 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 A Nickerson (50) , Ellen van Binsbergen (29) , Gregory M. 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 H Rodan (56) , Julian Martinez-Agosto (57) , Charlotte Ockeloen (58) , Marie Vincent (59) , William James Sunderland (6) , Jonathan Bernstein (30) , Evan Eichler (6) , John B. Vincent (60) , Michael Bamshad (61)
1 Division of Medical Genetics [Seattle]
2 Détoxication et réparation tissulaire
3 Les Hôpitaux Universitaires de Strasbourg (HUS)
4 FAU - Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg
5 Center for Integrative Brain Research [Seattle, WA, USA]
6 University of Washington [Seattle]
7 Central South University [Changsha]
8 Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health (CAMH)
9 Center for Integrative Brain Research
10 Ambry Genetics [Aliso Viejo, CA, USA]
11 CAU - China Agricultural University
12 BNMI - Biologie Neurovasculaire et Mitochondriale Intégrée
13 CHU Angers - Centre Hospitalier Universitaire d'Angers
14 Washington University School of Medicine in St. Louis
15 Kennedy Krieger Institute [Baltimore]
16 Institute of Human Genetics [Erlangen, Allemagne]
17 Leipzig University / Universität Leipzig
18 Yale University [New Haven]
19 OHSU - Oregon Health and Science University [Portland]
20 McGovern Medical School [Houston, Texas]
21 IUPUI - Indiana University - Purdue University Indianapolis
22 Indiana University [South Bend]
23 UTSA - The University of Texas at San Antonio
24 New York State Psychiatric Institute
25 Service de génétique médicale
26 CHU Strasbourg - Centre Hospitalier Universitaire [Strasbourg]
27 Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB)
28 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
29 University Medical Center [Utrecht]
30 Stanford University School of Medicine [CA, USA]
31 Memorial Hermann Heart and Vascular Institute [Houston, TX, USA]
32 UCF - University of Central Florida [Orlando]
33 UC San Diego - Department of Pediatrics [Univ California San Diego]
34 University of Colorado Anschutz [Aurora]
35 Department of Chemistry and Biochemistry [Bern]
36 CUIMC - Columbia University Irving Medical Center
37 Signal Processing Lab [Boise - Idaho]
38 CLEVELAND - UHCMC - University Hospitals Case Medical Center
39 Hôpital Jeanne de Flandres
40 Department of Psychology [University North Carolina Wilmington]
41 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
42 CHU de Poitiers - Centre hospitalier universitaire de Poitiers = Poitiers University Hospital
43 Service d'hématologie et immunologie
44 Unité de génétique médicale et oncogénétique [CHU Amiens Picardie]
45 IHTP - Institut d'histoire du temps présent
46 UMASS - University of Massachusetts Medical School [Worcester]
47 Queen's University [Kingston, Canada]
48 Department of Molecular Genetics [Toronto]
49 GeneDx [Gaithersburg, MD, USA]
50 GS - Department of Genome Sciences [Seattle]
51 Department of Pediatrics [Stanford]
52 Stanford School of Medicine [Stanford]
53 Stanford University
54 UC San Diego - University of California [San Diego]
55 CIIT - COMSATS Institute of Information Technology [Islamabad]
56 Boston Children's Hospital
57 UCLA - University of California [Los Angeles]
58 Radboud University Medical Center [Nijmegen]
59 CHU Nantes - Centre hospitalier universitaire de Nantes
60 Department of Psychiatry
61 Seattle University [Seattle]
Amy Yang
  • Fonction : Auteur
  • PersonId : 943468
Annika Dries
  • Fonction : Auteur
Marie Vincent
  • Fonction : Auteur
  • PersonId : 1056298

Résumé

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.

Dates et versions

hal-02543379 , version 1 (15-04-2020)

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Ghayda M. 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, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩. ⟨hal-02543379⟩
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