Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
Neurogenetics
; 21(4): 301-304, 2020 10.
Article
de En
| MEDLINE
| ID: mdl-32488727
ABSTRACT
Mutations in myotubularin-related protein 2 (MTMR2) were shown to underlie Charcot-Marie-Tooth type 4B1 (CMT4B1) disease, a rare autosomal recessive demyelinating neuropathy, characterized by severe early-onset motor and sensory neuropathy. We describe three siblings of consanguineous kindred presenting with hypotonia, reduced muscle tone, action tremor, dysmetria, areflexia, and skeletal deformities, consistent with a diagnosis of CMT. Whole-exome sequencing identified a novel homozygous c.336_337 insertion mutation in MTMR2, resulting in a frameshift and putative truncated protein. In this concise report, we discuss the clinical presentation of this rare disease and support the limited number of observations regarding the pathogenesis of MTMR2-related neuropathies.
Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Maladie de Charcot-Marie-Tooth
/
Protein Tyrosine Phosphatases, Non-Receptor
/
Homozygote
/
Mutation
/
Maladies du système nerveux
Type d'étude:
Prognostic_studies
Limites:
Female
/
Humans
/
Male
Langue:
En
Journal:
Neurogenetics
Sujet du journal:
GENETICA
/
NEUROLOGIA
Année:
2020
Type de document:
Article
Pays d'affiliation:
Israël