Journal Article Epublish 2 citations
PubMed: 35293193 DOI: 10.4081/ejtm.2022.10361
The genetic counseling in a patient affected by congenital polyneuropathy after a "diagnostic odyssey" recently solved with WES approach.
Eur J Transl Myol 32(1)
Authors: Marco Crimi, Adnan Tarawneh
Affiliations
- Kaleidos SCS onlus, Scientific Office, Bergamo.
- Kaleidos SCS onlus, Scientific Office, Bergamo.
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.
MeSH
Polyneuropathies, Genetic Counseling, Genes
Cited by
- Genome access and other web-based IT solutions: Genetic counseling in the digital era. Front Public Health, 2022