Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis.
Mol Genet Metab
; 125(3): 302-304, 2018 11.
Article
in En
| MEDLINE
| ID: mdl-30249361
ABSTRACT
Charcot-Marie-Tooth (CMT) disease type 1 is an inherited peripheral neuropathy characterized by demyelination and reduced nerve conduction velocities. We present a multi-generational family with peripheral neuropathy in whom clinical CMT panel testing failed to conclude a molecular diagnosis. We found a PMP2 pathogenic variant c.155Tâ¯>â¯C, p.(Ile52Thr) that segregates with disease suggesting that PMP2 variants should be considered in patients with neuropathy and that it may be prudent to include in clinical CMT gene panels.
Key words
Full text:
1
Database:
MEDLINE
Main subject:
Charcot-Marie-Tooth Disease
/
Peripheral Nervous System Diseases
/
Myelin P2 Protein
/
Pathology, Molecular
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
Language:
En
Year:
2018
Type:
Article