Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth disease.

ABSTRACT: CADM3 has been recently reported causing a rare axonal Charcot-Marie-Tooth disease in three independent Caucasian families carrying a recurrent change. We describe the first alternative causative mutation in CADM3 in a family from black African and also observed de novo in a patient of Caucasian ancestry. The disease inheritance was consistent with autosomal dominant and sporadic patterns, respectively. Eight patients and their relatives were enroled from both families. The mean age at diagnosis was 33.9 years, and walking difficulty was commonly the first symptom. Neurological examination showed distal muscle weakness and atrophy, sensory loss and foot and hand deformities. A high clinical variability was noted, but as seen in CADM3-associated neuropathy, sympt

SUBMITTER: Yalcouye A 

PROVIDER: S-EPMC10702457 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature