Case Reports
Vol. 32 No. 1 (2022)
The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Received: 10 January 2022
Accepted: 2 March 2022
Accepted: 2 March 2022
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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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Citations
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How to Cite
The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach. (2022). European Journal of Translational Myology, 32(1). https://doi.org/10.4081/ejtm.2022.10361