Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report

POLR3A is a main subunit encoding RNA polymerase III, which is involved in transcription of many RNA structures. Here, we report a new presentation of c.1771‐6C > G intronic variant presenting as developmental regression, seizure, and dystonia in a 6‐year‐old boy associated with striatum involvem...

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Detalles Bibliográficos
Autores principales: Nikkhah, Ali, Rezakhani, Sepideh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664542/
https://www.ncbi.nlm.nih.gov/pubmed/36397839
http://dx.doi.org/10.1002/ccr3.6556
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author Nikkhah, Ali
Rezakhani, Sepideh
author_facet Nikkhah, Ali
Rezakhani, Sepideh
author_sort Nikkhah, Ali
collection PubMed
description POLR3A is a main subunit encoding RNA polymerase III, which is involved in transcription of many RNA structures. Here, we report a new presentation of c.1771‐6C > G intronic variant presenting as developmental regression, seizure, and dystonia in a 6‐year‐old boy associated with striatum involvement in the brain MRI.
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spelling pubmed-96645422022-11-16 Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report Nikkhah, Ali Rezakhani, Sepideh Clin Case Rep Case Report POLR3A is a main subunit encoding RNA polymerase III, which is involved in transcription of many RNA structures. Here, we report a new presentation of c.1771‐6C > G intronic variant presenting as developmental regression, seizure, and dystonia in a 6‐year‐old boy associated with striatum involvement in the brain MRI. John Wiley and Sons Inc. 2022-11-15 /pmc/articles/PMC9664542/ /pubmed/36397839 http://dx.doi.org/10.1002/ccr3.6556 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://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 Report
Nikkhah, Ali
Rezakhani, Sepideh
Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report
title Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report
title_full Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report
title_fullStr Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report
title_full_unstemmed Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report
title_short Developmental regression and movement disorder as a phenotypic variant of POLR3A Mutation—Case report
title_sort developmental regression and movement disorder as a phenotypic variant of polr3a mutation—case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9664542/
https://www.ncbi.nlm.nih.gov/pubmed/36397839
http://dx.doi.org/10.1002/ccr3.6556
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