The genetic counseling in a patient affected by congenital polyneuropathy after a "diagnostic odyssey" recently
1Kaleidos SCS onlus, Scientific Office, Bergamo. marco.crimi@gmail.com.
European Journal of Translational Myology
|March 16, 2022
Abstract:
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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