PMP22 single exon deletion in a proband with hematologic malignancy and family history of Charcot-Marie-Tooth disease

Charcot-Marie Tooth disease (CMT) is a group of hereditary sensory polyneuropathies that characteristically result in distal muscle weakness and atrophy alongside impaired deep tendon reflexes and pes cavus formation. Symptoms typically occur in the first to third decade and are slowly progressive but can be exacerbated by neurotoxic chemotherapeutic agents. Duplications or gain-of-function variants in the PMP22 gene cause autosomal dominant CMT types 1A and 1E, while loss-of-function changes underlie the allelic condition Hereditary Neuropathy with Liability to Pressure Palsies (HNPP).