Open AccessWhole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
Author(s) -
Kaur Simranpreet,
Van Bergen Nicole J.,
Gold Wendy Anne,
Eggers Stefanie,
Lunke Sebastian,
White Susan M.,
Ellaway Carolyn,
Christodoulou John
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2511
Subject(s) - rett syndrome , missense mutation , exome sequencing , medicine , genetics , phenotype , exome , gene , bioinformatics , biology
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.