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

doi:10.1002/ccr3.2511

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient

Clin Case Rep. 2019 Nov 12;7(12):2476-2482. doi: 10.1002/ccr3.2511. eCollection 2019 Dec.

Authors

Simranpreet Kaur^{1

2}, Nicole J Van Bergen^{1

2}, Wendy Anne Gold^{3

4}, Stefanie Eggers^{5

6}, Sebastian Lunke^{5

6}, Susan M White^{2

6}, Carolyn Ellaway^{4

7}, John Christodoulou^{1

2

4

6}

Affiliations

¹ Brain and Mitochondrial Research Group Murdoch Children's Research Institute Parkville Vic. Australia.
² Department of Paediatrics University of Melbourne Parkville Vic. Australia.
³ Molecular Neurobiology Lab, Kids Research Westmead Children's Hospital Westmead NSW Australia.
⁴ Disciplines of Genetic Medicine and Child and Adolescent Health Sydney Medical School University of Sydney NSW Australia.
⁵ Translational Genomics Unit Murdoch Children's Research Institute Parkville Vic. Australia.
⁶ Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville Vic. Australia.
⁷ Genetic Metabolic Disorders Service Sydney Children's Hospital Network Sydney NSW Australia.

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.

Keywords: EEF1A2; Rett syndrome; elongation factor‐1; intellectual disability; mutation.

Publication types

Case Reports