A novel PMP22 insertion mutation causing Charcot-Marie-Tooth disease type 3: A case report.

ABSTRACT:

Rationale

Charcot-Marie-Tooth disease (CMT) is a group of hereditary neuropathies with clinical features of muscle atrophy, sensory loss, and foot deformities. CMT is related to a number of genes, such as peripheral myelin protein 22 gene (PMP22). Missense mutations, small deletion mutations, and duplications of PMP22 are common in CMT patients, but few insertion mutation cases of PMP22 have been reported.

Patient concerns

A 26-year-old male patient with the complaint of general weakness, peroneal atrophy, and deformities in the extremities visited our hospital. The patient was born with bilateral thumbs and feet dystonia. Additionally, delayed feet arch development and delayed walking was observed when he was a child.

Diagnosis

Using whole-exome sequencing and electr

SUBMITTER: Han L 

PROVIDER: S-EPMC7982204 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature