Novel Dominant Splicing Variant in MPZ Associated With Unusual Charcot-Marie-Tooth Disease.

ABSTRACT:

Background and aims

Variants in the myelin protein zero coding MPZ gene are responsible for a broad spectrum of peripheral demyelinating and axonal neuropathies, including different types of Charcot-Marie-Tooth diseases, challenging for genotype-phenotype correlation.

Methods

Minigene splicing reporter assay was used to unveil the pathogenic mechanism of a novel MPZ(NM_000530.8) c.234 + 1G>C p.(?) heterozygous splice variant.

Results

The variant was identified in a 47-year-old female patient presenting with atypical clinical features, including balance disturbance with positive Romberg, absent Achilles tendon reflexes, distal hypoesthesia and bulbar involvement, including dysarthria and dysphagia. Electromyography revealed a sensory-motor neuropathy with moderately re

SUBMITTER: Maino A 

PROVIDER: S-EPMC12687107 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature