Journal article
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient
Simranpreet Kaur, Nicole J Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M White, Carolyn Ellaway, John Christodoulou
CLINICAL CASE REPORTS | WILEY | Published : 2019
DOI: 10.1002/ccr3.2511
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.
Grants
Funding Acknowledgements
We thank all the family members for taking part in this study. The research conducted at the Murdoch Children's Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program.