title: A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.
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.
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, South Korea.
authors.forename: Ki Wha
authors.initials: KW
authors.lastname: Chung
authors.affiliation: Department of Neurology, Yonsei University, College of Medicine, Seoul, South Korea.
authors.forename: Seung Min
authors.initials: SM
authors.lastname: Kim
authors.affiliation: Department of Neurology, Yonsei University, College of Medicine, Seoul, South Korea.
authors.forename: Il Nam
authors.initials: IN
authors.lastname: Sunwoo
authors.affiliation: 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.
authors.forename: Sun Young
authors.initials: SY
authors.lastname: Cho
authors.affiliation: 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.
authors.forename: Su Jin
authors.initials: SJ
authors.lastname: Hwang
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, South Korea.
authors.forename: Joonki
authors.initials: J
authors.lastname: Kim
authors.affiliation: Department of Biological Science, Kongju National University, Gongju, South Korea.
authors.forename: Sung Hee
authors.initials: SH
authors.lastname: Kang
authors.affiliation: 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.
authors.forename: Kee-Duk
authors.initials: KD
authors.lastname: Park
authors.affiliation: 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.
authors.forename: Kyoung-Gyu
authors.initials: KG
authors.lastname: Choi
authors.affiliation: Department of Neurology, National Health Insurance Corporation Ilsan Hospital, Goyang, South Korea.
authors.forename: Il Saing
authors.initials: IS
authors.lastname: Choi
authors.affiliation: 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.
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
mesh_terms: 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
chemical_list: C118663:GDAP protein; D009419:Nerve Tissue Proteins