Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

THOC2 intellectual disability mRNA export microdeletion neurodevelopmental disorders

Journal

Frontiers in molecular neuroscience
ISSN: 1662-5099
Titre abrégé: Front Mol Neurosci
Pays: Switzerland
ID NLM: 101477914

Informations de publication

Date de publication:
2020
Historique:
received: 18 10 2019
accepted: 15 01 2020
entrez: 3 3 2020
pubmed: 3 3 2020
medline: 3 3 2020
Statut: epublish

Résumé

Multiple TREX mRNA export complex subunits (e.g., THOC1, THOC2, THOC5, THOC6, THOC7) have now been implicated in neurodevelopmental disorders (NDDs), neurodegeneration and cancer. We previously implicated missense and splicing-defective

Identifiants

DOI: 10.3389/fnmol.2020.00012 PMID: 32116545 PMC: PMC7026477
pubmed: 32116545
doi: 10.3389/fnmol.2020.00012
pmc: PMC7026477
doi:

Types de publication

Journal Article

Langues

eng

Pagination

12

Informations de copyright

Copyright © 2020 Kumar, Palmer, Gardner, Carroll, Banka, Abdelhadi, Donnai, Elgersma, Curry, Gardham, Suri, Malla, Brady, Tarnopolsky, Azmanov, Atkinson, Black, Baynam, Dreyer, Hayeems, Marshall, Costain, Wessels, Baptista, Drummond, Leffler, Field and Gecz.

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Auteurs

Raman Kumar (R)

Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.

Elizabeth Palmer (E)

Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
School of Women's and Children's Health, University of New South Wales, Randwick, NSW, Australia.

Alison E Gardner (AE)

Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.

Renee Carroll (R)

Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.

Siddharth Banka (S)

Faculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom.

Ola Abdelhadi (O)

Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom.

Dian Donnai (D)

Faculty of Biology, Medicine and Health, Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom.

Ype Elgersma (Y)

Department of Neuroscience, Erasmus MC University Medical Center, Rotterdam, Netherlands.
ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, Netherlands.

Cynthia J Curry (CJ)

Genetic Medicine, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, United States.

Alice Gardham (A)

North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, United Kingdom.

Mohnish Suri (M)

Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, and the 100,000 Genomes Project and the Genomics England Research Consortium, Nottingham, United Kingdom.

Rishikesh Malla (R)

Division of Pediatric Neurology, Medical University of South Carolina, Charleston, SC, United States.

Lauren Ilana Brady (LI)

Department of Pediatrics, McMaster University Medical Centre, Hamilton, ON, Canada.

Mark Tarnopolsky (M)

Department of Pediatrics, McMaster University Medical Centre, Hamilton, ON, Canada.

Dimitar N Azmanov (DN)

Department of Diagnostic Genomics, PathWest, Nedlands, WA, Australia.
Division of Pathology and Laboratory Medicine, Medical School, University of Western Australia, Crawley, WA, Australia.

Vanessa Atkinson (V)

Department of Diagnostic Genomics, PathWest, Nedlands, WA, Australia.
Division of Pathology and Laboratory Medicine, Medical School, University of Western Australia, Crawley, WA, Australia.

Michael Black (M)

Department of Diagnostic Genomics, PathWest, Nedlands, WA, Australia.
Division of Pathology and Laboratory Medicine, Medical School, University of Western Australia, Crawley, WA, Australia.

Gareth Baynam (G)

Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia.

Lauren Dreyer (L)

Genetic Services of Western Australia, Undiagnosed Diseases Program, Department of Health, Government of Western Australia, Perth, WA, Australia.
Linear Clinical Research, Perth, WA, Australia.

Robin Z Hayeems (RZ)

Child Health Evaluative Sciences, Research Institute, The Hospital for Sick Children, and Institute of Health Policy Management and Evaluation, University of Toronto, Toronto, ON, Canada.

Christian R Marshall (CR)

Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.

Gregory Costain (G)

Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.

Marja W Wessels (MW)

Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, Netherlands.

Julia Baptista (J)

Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.

James Drummond (J)

Neuroradiology, Royal North Shore Hospital, Sydney, NSW, Australia.

Melanie Leffler (M)

Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.

Michael Field (M)

Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.

Jozef Gecz (J)

Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.
Childhood Disability Prevention, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.

Classifications MeSH