Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease

Clin Neurol Neurosurg. 2019 Sep:184:105430. doi: 10.1016/j.clineuro.2019.105430. Epub 2019 Jul 10.

Abstract

The X-linked form of Charcot-Marie-Tooth disease type1 (CMTX1) is the second most common hereditary motor and sensory neuropathy caused by mutations in the gap junction beta 1 (GJB1) gene. Here, we report the clinical and genetic features of six unrelated Chinese patients with CMTX1, which were identified by genetic analysis. Among the 6 identified mutations, 3 were previously unknown (c.31A > T, c.42 C > G and c.423 del C). The six patients showed typical signs of CMT with a median age of onset of 16.5 years (range: 13-30). Sensorineural hearing loss was confirmed in the patient with the c.423 del C mutation. White matter lesions on brain magnetic resonance imaging (MRI) were observed in two patients. The three newly identified GJB1 mutations expand the clinical and mutational spectrum of CMTX1.

Keywords: CMTX1; Chinese; Cx32; GJB1.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / diagnosis
  • Charcot-Marie-Tooth Disease / genetics*
  • Connexins / genetics*
  • Female
  • Gap Junction beta-1 Protein
  • Genetic Testing
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Phenotype
  • Young Adult

Substances

  • Connexins
  • Gap Junction beta-1 Protein

Supplementary concepts

  • Charcot-Marie-Tooth disease, X-linked, 1