title: Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.
abstract: Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive demyelinating form of CMT characterized clinically by early onset and severe spinal deformities, and is caused by mutations in SH3TC2. We describe the case of a 10-year-old Japanese girl diagnosed with CMT4C. The patient developed progressive foot deformities such as marked pes cavus and ankle contracture, with mild muscle weakness in both legs, and generalized areflexia. On electrophysiological studies, motor nerve conduction velocity ranged from 22.3 m/s in the tibial nerve to 48.2 m/s in the median nerve. Sensory nerve conduction velocity ranged from 30.3 m/s in the sural nerve to 52.8 m/s in the median nerve. Sequence analysis of candidate genes identified two novel heterozygous mutations, c.229C>T and c.2775G>A, in SH3TC2. The patient was diagnosed as having CMT4C with novel mutations, making this the first documented Japanese pediatric case.
authors.affiliation: Department of Pediatrics, Odawara Municipal Hospital, Odawara, Japan.|Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan.
authors.forename: Kazushi
authors.initials: K
authors.lastname: Ichikawa
authors.affiliation: Department of Pediatrics, Odawara Municipal Hospital, Odawara, Japan.
authors.forename: Keita
authors.initials: K
authors.lastname: Numasawa
authors.affiliation: Department of Pediatrics, Odawara Municipal Hospital, Odawara, Japan.
authors.forename: Saoko
authors.initials: S
authors.lastname: Takeshita
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation; D010641:Phenotype; D011506:Proteins / Q000235:genetics* / Q000378:metabolism
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C488620:SH3TC2 protein, human; D004247:DNA
keywords: 
  SH3TC2
  ; Charcot-Marie-Tooth disease; hereditary neuropathy; scoliosis