A novel RAB7 mutation in a Chinese family with Charcot-Marie-Tooth type 2B disease

Gene. 2014 Jan 25;534(2):431-4.

Abstract

Charcot–Marie–Tooth type 2B (CMT2B) disease is a hereditary motor and sensory neuropathy subtype characterized by prominent loss of sensation, distal muscle weakness and wasting skin ulcers. Recurrent ulcers often require amputation of lower limbs. To date, only four mutations of the RAB7 gene, which encodes the small GTPase, have been associated with CMT2B. A Chinese family with CMT2B was identified. Direct DNA sequencing performed on the affected individuals in this family revealed a novel mutation (p.Asn161Ile) in RAB7. The mutation is located in a potential mutational hotspot region, implicating the importance of this region for RAB7 protein. This is the first report of RAB7 mutation in Asian population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Asian People
  • Charcot-Marie-Tooth Disease / genetics*
  • Female
  • Humans
  • Laminopathies
  • Middle Aged
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • Sequence Alignment
  • rab GTP-Binding Proteins / genetics*
  • rab7 GTP-Binding Proteins

Substances

  • rab7 GTP-Binding Proteins
  • rab7 GTP-binding proteins, human
  • rab GTP-Binding Proteins

Supplementary concepts

  • Charcot-Marie-Tooth disease, Type 2B