A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.
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.
Chung
Ki Wha
KW
Department of Biological Science, Kongju National University, Gongju, South Korea.
Kim
Seung Min
SM
Department of Neurology, Yonsei University, College of Medicine, Seoul, South Korea.
Sunwoo
Il Nam
IN
Department of Neurology, Yonsei University, College of Medicine, Seoul, South Korea.
Cho
Sun Young
SY
Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, 70 Jongno 6-ga, Jongno-gu, Seoul, 110-783, South Korea.
Hwang
Su Jin
SJ
Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, 70 Jongno 6-ga, Jongno-gu, Seoul, 110-783, South Korea.
Kim
Joonki
J
Department of Biological Science, Kongju National University, Gongju, South Korea.
Kang
Sung Hee
SH
Department of Biological Science, Kongju National University, Gongju, South Korea.
Park
Kee-Duk
KD
Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, 70 Jongno 6-ga, Jongno-gu, Seoul, 110-783, South Korea.
Choi
Kyoung-Gyu
KG
Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, 70 Jongno 6-ga, Jongno-gu, Seoul, 110-783, South Korea.
Choi
Il Saing
IS
Department of Neurology, National Health Insurance Corporation Ilsan Hospital, Goyang, South Korea.
Choi
Byung-Ok
BO
Department of Neurology and Ewha Medical Research Center, Ewha Womans University, School of Medicine, 70 Jongno 6-ga, Jongno-gu, Seoul, 110-783, South Korea. bochoi@ewha.ac.kr.
D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004594:Electrophysiology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007723:Korea; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D013497:Sural Nerve / Q000648:ultrastructure
C118663:GDAP protein; D009419:Nerve Tissue Proteins