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

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.

Detalles Bibliográficos
Autores principales: Kaur, Simranpreet, Van Bergen, Nicole J., Gold, Wendy Anne, Eggers, Stefanie, Lunke, Sebastian, White, Susan M., Ellaway, Carolyn, Christodoulou, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935606/
https://www.ncbi.nlm.nih.gov/pubmed/31893083
http://dx.doi.org/10.1002/ccr3.2511
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author Kaur, Simranpreet
Van Bergen, Nicole J.
Gold, Wendy Anne
Eggers, Stefanie
Lunke, Sebastian
White, Susan M.
Ellaway, Carolyn
Christodoulou, John
author_facet Kaur, Simranpreet
Van Bergen, Nicole J.
Gold, Wendy Anne
Eggers, Stefanie
Lunke, Sebastian
White, Susan M.
Ellaway, Carolyn
Christodoulou, John
author_sort Kaur, Simranpreet
collection PubMed
description 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.
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spelling pubmed-69356062019-12-31 Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient Kaur, Simranpreet Van Bergen, Nicole J. Gold, Wendy Anne Eggers, Stefanie Lunke, Sebastian White, Susan M. Ellaway, Carolyn Christodoulou, John Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2019-11-12 /pmc/articles/PMC6935606/ /pubmed/31893083 http://dx.doi.org/10.1002/ccr3.2511 Text en © 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Kaur, Simranpreet
Van Bergen, Nicole J.
Gold, Wendy Anne
Eggers, Stefanie
Lunke, Sebastian
White, Susan M.
Ellaway, Carolyn
Christodoulou, John
Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
title Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
title_full Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
title_fullStr Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
title_full_unstemmed Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
title_short Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient
title_sort whole exome sequencing reveals a de novo missense variant in eef1a2 in a rett syndrome‐like patient
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935606/
https://www.ncbi.nlm.nih.gov/pubmed/31893083
http://dx.doi.org/10.1002/ccr3.2511
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