The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach

Counseling after WES/WGS presents challenges for healthcare providers as the availability of consumer-driven is rapidly increasing. The present report uncovers an extremely rare homozygous nonsense mutation c. 1639C>T (p.Gln547Ter) in PRX gene of a patient with heterogeneous manifestation of Char...

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Autores principales: Crimi, Marco, Tarawneh, Adnan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8992674/
https://www.ncbi.nlm.nih.gov/pubmed/35293193
http://dx.doi.org/10.4081/ejtm.2022.10361
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author Crimi, Marco
Tarawneh, Adnan
author_facet Crimi, Marco
Tarawneh, Adnan
author_sort Crimi, Marco
collection PubMed
description Counseling after WES/WGS presents challenges for healthcare providers as the availability of consumer-driven is rapidly increasing. The present report uncovers an extremely rare homozygous nonsense mutation c. 1639C>T (p.Gln547Ter) in PRX gene of a patient with heterogeneous manifestation of Charcot-Marie-Tooth. Such studies can help to conduct genetic counseling and subsequently more accurate support to individual cases with neuro-genetic conditions and solved through whole genome/exome-wide screening.
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spelling pubmed-89926742022-04-09 The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach Crimi, Marco Tarawneh, Adnan Eur J Transl Myol Case Report Counseling after WES/WGS presents challenges for healthcare providers as the availability of consumer-driven is rapidly increasing. The present report uncovers an extremely rare homozygous nonsense mutation c. 1639C>T (p.Gln547Ter) in PRX gene of a patient with heterogeneous manifestation of Charcot-Marie-Tooth. Such studies can help to conduct genetic counseling and subsequently more accurate support to individual cases with neuro-genetic conditions and solved through whole genome/exome-wide screening. PAGEPress Publications, Pavia, Italy 2022-03-14 /pmc/articles/PMC8992674/ /pubmed/35293193 http://dx.doi.org/10.4081/ejtm.2022.10361 Text en https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution Noncommercial License (by-nc 4.0) which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
spellingShingle Case Report
Crimi, Marco
Tarawneh, Adnan
The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach
title The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach
title_full The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach
title_fullStr The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach
title_full_unstemmed The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach
title_short The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach
title_sort genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with wes approach
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8992674/
https://www.ncbi.nlm.nih.gov/pubmed/35293193
http://dx.doi.org/10.4081/ejtm.2022.10361
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