A novel GDAP1 Q218E mutation in autosomal dominant CMT

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

Tooth disease

Chung KW, Kim SM, Sunwoo IN, Cho SY, Hwang SJ, Kim J, Kang SH, Park

KD, Choi KG, Choi IS, Choi BO.

Department of Biological Science, Kongju National University, Gongju,

South Korea.

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.