A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease

Ki Wha Chung, Seung Min Kim, Il Nam Sunwoo, Sun Young Cho, Su Jin Hwang, Joonki Kim, Sung Hee Kang, Kee Duk Park, Kyoung Gyu Choi, Il Saing Choi, Byung Ok Choi

Research output: Contribution to journalArticlepeer-review

41 Scopus citations

Abstract

A wide range of phenotypes have been reported in autosomal recessive (AR) Charcot-Marie-Tooth disease (CMT) patients carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene, such as axonal, demyelinating, and intermediate forms of AR CMT. There have been very few reports of GDAP1 mutations in autosomal dominant (AD) CMT. Here, we report an AD CMT family with a novel Q218E mutation in the GDAP1 gene. The mutation was located within the well-conserved glutathione S-transferase (GST) core region and co-segregated with the affected members in the pedigree. The affected AD CMT individuals had a later disease onset and much milder phenotypes than the AR CMT patients, and the histopathologic examination revealed both axonal degeneration and demyelination.

Original languageEnglish
Pages (from-to)360-364
Number of pages5
JournalJournal of Human Genetics
Volume53
Issue number4
DOIs
StatePublished - Apr 2008

Keywords

  • Autosomal dominant
  • Charcot-Marie-Tooth disease
  • Ganglioside-induced differentiation-associated protein 1
  • Mutation
  • Phenotype

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