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

Simranpreet KaurNicole J Van BergenWendy Anne GoldStefanie EggersSebastian LunkeSusan M WhiteCarolyn EllawayJohn Chrisodoulou

Published in: Clinical case reports (2019)

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.

Keyphrases

case report
genome wide
gene expression
intellectual disability
copy number
transcription factor