A novel SBF1 missense mutation causes autosomal dominant Charcot-Marie-Tooth disease type 4B3.

ABSTRACT:

Introduction

We present a case of autosomal dominant Charcot-Marie-Tooth disease type 4B3 (CMT4B3) in a family caused by a novel SBF1 missense mutation.

Methods

Two patients, a mother and daughter, were recruited from our hospital. Both exhibited early-onset symptoms, including distal muscle atrophy of the limbs, without cranial nerve involvement. Electromyography was performed to assess nerve amplitudes and conduction velocities. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify genetic mutations.

Results

Electromyography revealed a significant decline in nerve amplitudes, while the nerve conduction velocities (NCVs) remained normal in the extremities. Sequencing identified a novel missense mutation (c.1398C > A, p.H466Q) in exon 13

SUBMITTER: Liu H 

PROVIDER: S-EPMC11633322 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature