Charcot‐marie‐tooth disease type 4C in Japan: Report of a case

Iguchi, Masahide; Hashiguchi, Akihiro; Ito, Eiichi; Toda, Kunio; Urano, Mari; Shimizu, Yuko; Takeuchi, Chisen; Saito, Kayoko; Takashima, Hiroshi; Uchiyama, Shinichiro

doi:10.1002/mus.23540

Cited by 3 publications

(2 citation statements)

References 31 publications

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“…In the present patient, DNA screening for CMT causative genes indicated two novel p.R77W and p.W925X heterozygous variants, resulting from mutations in SH3TC2 . There has been only one reported Japanese CMT4C case, in an adult with p.R529Q . It is likely that CMT4C is underdiagnosed in East Asia due to a lack of clinician awareness and the mild muscle weakness in proportion to the foot or spinal deformities.…”

Section: Discussionmentioning

confidence: 99%

“…There has been only one reported Japanese CMT4C case, in an adult with p.R529Q. 10 It is likely that CMT4C is underdiagnosed in East Asia due to a lack of clinician awareness and the mild muscle weakness in proportion to the foot or spinal deformities. CMT4C should be considered in any patient with equinus foot deformities in the absence of spinal deformities.…”

Section: Discussionmentioning

confidence: 99%

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Novel mutations in SH3TC2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C

Ichikawa

Numasawa

Takeshita

et al. 2016

Pediatrics International

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Novel mutations in SH3TC2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C

Ichikawa

Numasawa

Takeshita

et al. 2016

Pediatrics International

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Charcot–Marie–Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence

Arntzen

Høyer

Ørstavik

et al. 2018

Neuromuscular Disorders

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Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2

et al. 2018

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SH3TC2, known as the causative gene of autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C), was also found linked to a mild mononeuropathy of the median nerve with an autosomal dominant inheritance pattern. Using DNA microarray, Illumina MiSeq, and Ion proton, we carried out gene panel sequencing among 1483 Japanese CMT patients, containing 397 patients with demyelinating CMT. From seven patients with demyelinating CMT, we identified eight recessive variants in the SH3TC2 gene, consisting of five novel (pathogenic/likely pathogenic) and three reported variants. Additionally, from two patients with axonal CMT, we detected a reported recessive variant, p.Arg77Trp, which was herein reclassified as variant with unknown significance. Of the seven CMT4C patients (six females and one male), 2/7 patients developed symptoms at their first decade, and 5/7 patients lost their ambulation around age 50. Scoliosis was observed from more than half (4/7) of these patients, whereas hearing loss is the most common symptom of central nervous system (6/7). No median nerve mononeuropathy was recorded from their family members. We identified recessive variants in SH3TC2 from 1.76% of demyelinating CMT patients. An uncommon gender difference was recognized and the wild spectrum of these variants suggests mutational diversity of SH3TC2 in Japan.

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Charcot‐marie‐tooth disease type 4C in Japan: Report of a case

Abstract: Although CMT4C also occurs in Japan, it is less common than in European countries.

Cited by 3 publications

References 31 publications

Novel mutations in SH3TC2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C

Novel mutations in SH3TC2 in a young Japanese girl with Charcot‐Marie‐Tooth disease type 4C

Charcot–Marie–Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2

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