Full text

Turn on search term navigation

© 2019. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.

Abstract

Using whole exome sequencing, we found a pathogenic variant in the EEF1A2 gene in a patient with a Rett syndrome‐like (RTT‐like) phenotype, further confirming the association between EEF1A2 and Rett syndrome RTT and RTT‐like phenotypes.

Details

Title
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
Author
Kaur, Simranpreet 1 ; Van Bergen, Nicole J 1 ; Gold, Wendy Anne 2   VIAFID ORCID Logo  ; Eggers, Stefanie 3 ; Lunke, Sebastian 3 ; White, Susan M 4 ; Ellaway, Carolyn 5 ; Christodoulou, John 6   VIAFID ORCID Logo 

 Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Vic., Australia; Department of Paediatrics, University of Melbourne, Parkville, Vic., Australia 
 Molecular Neurobiology Lab, Kids Research, Westmead Children's Hospital, Westmead, NSW, Australia; Disciplines of Genetic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia 
 Translational Genomics Unit, Murdoch Children's Research Institute, Parkville, Vic., Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Vic., Australia 
 Department of Paediatrics, University of Melbourne, Parkville, Vic., Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Vic., Australia 
 Disciplines of Genetic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Genetic Metabolic Disorders Service, Sydney Children's Hospital Network, Sydney, NSW, Australia 
 Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Parkville, Vic., Australia; Department of Paediatrics, University of Melbourne, Parkville, Vic., Australia; Disciplines of Genetic Medicine and Child and Adolescent Health, Sydney Medical School, University of Sydney, NSW, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Vic., Australia 
Pages
2476-2482
Section
CASE REPORTS
Publication year
2019
Publication date
Dec 2019
Publisher
John Wiley & Sons, Inc.
e-ISSN
20500904
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2331173848
Copyright
© 2019. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.