Evaluation of Pathogenicity and Causativity of Variants in the
CMT
HMSN
MPZ
SH3TC2
gene panel
minigene assay
splicing variants
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
06 Jun 2023
06 Jun 2023
Historique:
received:
22
03
2023
revised:
31
05
2023
accepted:
02
06
2023
medline:
29
6
2023
pubmed:
28
6
2023
entrez:
28
6
2023
Statut:
epublish
Résumé
The implementation of NGS methods into clinical practice allowed researchers effectively to establish the molecular cause of a disorder in cases of a genetically heterogeneous pathology. In cases of several potentially causative variants, we need additional analysis that can help in choosing a proper causative variant. In the current study, we described a family case of hereditary motor and sensory neuropathy (HMSN) type 1 (Charcot-Marie-Tooth disease). DNA analysis revealed two variants in the
Identifiants
pubmed: 37372933
pii: ijms24129786
doi: 10.3390/ijms24129786
pmc: PMC10298462
pii:
doi:
Substances chimiques
Codon, Nonsense
0
SH3TC2 protein, human
0
Intracellular Signaling Peptides and Proteins
0
MPZ protein, human
0
Myelin P0 Protein
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Ministry of Science and Higher Education of the Russian Federation
ID : grant number № 075-15-2021-1061, RF 193021X0029
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