Literature DB >> 32846283

New gene discoveries highlight functional convergence in autism and related neurodevelopmental disorders.

Mariana Moyses-Oliveira1, Rachita Yadav1, Serkan Erdin2, Michael E Talkowski3.   

Abstract

Over the last two years, remarkable gene discovery efforts have implicated disruption of pathways involving gene regulatory functions and neuronal processes in autism spectrum disorder (ASD), and more broadly defined neurodevelopmental disorders (NDDs). Functional studies in the developing brain and across cell types demonstrate that the spatiotemporal expression patterns of many of these genes coalesce on subnetworks with distinct developmental trajectories. Here, we review the convergent biological processes derived from gene discovery and functional genomics in ASD and NDD from 2018-2020. We further probe the mechanistic insights that suggest these frequently perturbed pathways are interconnected and, ultimately, converge on specific functional deficits in human neurodevelopment.
Copyright © 2020 Elsevier Ltd. All rights reserved.

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Year:  2020        PMID: 32846283     DOI: 10.1016/j.gde.2020.07.001

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  11 in total

Review 1.  Multidisciplinary approaches for elucidating genetics and molecular pathogenesis of urinary tract malformations.

Authors:  Kamal Khan; Dina F Ahram; Yangfan P Liu; Rik Westland; Rosemary V Sampogna; Nicholas Katsanis; Erica E Davis; Simone Sanna-Cherchi
Journal:  Kidney Int       Date:  2021-11-12       Impact factor: 10.612

2.  Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.

Authors:  Jack M Fu; F Kyle Satterstrom; Minshi Peng; Harrison Brand; Ryan L Collins; Shan Dong; Brie Wamsley; Lambertus Klei; Lily Wang; Stephanie P Hao; Christine R Stevens; Caroline Cusick; Mehrtash Babadi; Eric Banks; Brett Collins; Sheila Dodge; Stacey B Gabriel; Laura Gauthier; Samuel K Lee; Lindsay Liang; Alicia Ljungdahl; Behrang Mahjani; Laura Sloofman; Andrey N Smirnov; Mafalda Barbosa; Catalina Betancur; Alfredo Brusco; Brian H Y Chung; Edwin H Cook; Michael L Cuccaro; Enrico Domenici; Giovanni Battista Ferrero; J Jay Gargus; Gail E Herman; Irva Hertz-Picciotto; Patricia Maciel; Dara S Manoach; Maria Rita Passos-Bueno; Antonio M Persico; Alessandra Renieri; James S Sutcliffe; Flora Tassone; Elisabetta Trabetti; Gabriele Campos; Simona Cardaropoli; Diana Carli; Marcus C Y Chan; Chiara Fallerini; Elisa Giorgio; Ana Cristina Girardi; Emily Hansen-Kiss; So Lun Lee; Carla Lintas; Yunin Ludena; Rachel Nguyen; Lisa Pavinato; Margaret Pericak-Vance; Isaac N Pessah; Rebecca J Schmidt; Moyra Smith; Claudia I S Costa; Slavica Trajkova; Jaqueline Y T Wang; Mullin H C Yu; David J Cutler; Silvia De Rubeis; Joseph D Buxbaum; Mark J Daly; Bernie Devlin; Kathryn Roeder; Stephan J Sanders; Michael E Talkowski
Journal:  Nat Genet       Date:  2022-08-18       Impact factor: 41.307

3.  Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities.

Authors:  Médéric Jeanne; Hélène Demory; Aubin Moutal; Marie-Laure Vuillaume; Sophie Blesson; Rose-Anne Thépault; Sylviane Marouillat; Judith Halewa; Saskia M Maas; M Mahdi Motazacker; Grazia M S Mancini; Marjon A van Slegtenhorst; Avgi Andreou; Helene Cox; Julie Vogt; Jason Laufman; Natella Kostandyan; Davit Babikyan; Miroslava Hancarova; Sarka Bendova; Zdenek Sedlacek; Kimberly A Aldinger; Elliott H Sherr; Emanuela Argilli; Eleina M England; Séverine Audebert-Bellanger; Dominique Bonneau; Estelle Colin; Anne-Sophie Denommé-Pichon; Brigitte Gilbert-Dussardier; Bertrand Isidor; Sébastien Küry; Sylvie Odent; Richard Redon; Rajesh Khanna; William B Dobyns; Stéphane Bézieau; Jérôme Honnorat; Bernhard Lohkamp; Annick Toutain; Frédéric Laumonnier
Journal:  Am J Hum Genet       Date:  2021-04-23       Impact factor: 11.043

4.  Altered canonical and striatal-frontal resting state functional connectivity in children with pathogenic variants in the Ras/mitogen-activated protein kinase pathway.

Authors:  Jennifer L Bruno; Sharon B Shrestha; Allan L Reiss; Manish Saggar; Tamar Green
Journal:  Mol Psychiatry       Date:  2022-01-28       Impact factor: 13.437

5.  Clinical and Neurobiological Aspects of TAO Kinase Family in Neurodevelopmental Disorders.

Authors:  Chun Hu; Pan Feng; Qian Yang; Lin Xiao
Journal:  Front Mol Neurosci       Date:  2021-03-24       Impact factor: 5.639

6.  Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin.

Authors:  Aloysius Domingo; Rachita Yadav; Shivangi Shah; William T Hendriks; Serkan Erdin; Dadi Gao; Kathryn O'Keefe; Benjamin Currall; James F Gusella; Nutan Sharma; Laurie J Ozelius; Michelle E Ehrlich; Michael E Talkowski; D Cristopher Bragg
Journal:  Am J Hum Genet       Date:  2021-10-20       Impact factor: 11.025

Review 7.  Flexible Stoichiometry: Implications for KCNQ2- and KCNQ3-Associated Neurodevelopmental Disorders.

Authors:  Kristen Springer; Nissi Varghese; Anastasios V Tzingounis
Journal:  Dev Neurosci       Date:  2021-04-01       Impact factor: 2.984

8.  Recent trends in autism spectrum disorder research using text mining of PubMed: importance of early detection.

Authors:  Seung Soo Kim
Journal:  Clin Exp Pediatr       Date:  2020-11-09

9.  Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder.

Authors:  Judith Halewa; Sylviane Marouillat; Manon Dixneuf; Rose-Anne Thépault; Dévina C Ung; Nicolas Chatron; Bénédicte Gérard; Jamal Ghoumid; Gaëtan Lesca; Marianne Till; Thomas Smol; Nathalie Couque; Lyse Ruaud; Valérie Chune; Sarah Grotto; Alain Verloes; Marie-Laure Vuillaume; Annick Toutain; Martine Raynaud; Frédéric Laumonnier
Journal:  Hum Mutat       Date:  2021-05-03       Impact factor: 4.878

Review 10.  Spatial and Temporal Gene Function Studies in Rodents: Towards Gene-Based Therapies for Autism Spectrum Disorder.

Authors:  Iris W Riemersma; Robbert Havekes; Martien J H Kas
Journal:  Genes (Basel)       Date:  2021-12-23       Impact factor: 4.096

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