X‐linked dominant Charcot‐Marie‐Tooth disease with connexin 32 (<i>Cx32</i>) mutations in Koreans

Kim, Yonggyun; Kg, Choi; Kd, Park; Ks, Lee; Chung, Kian Fan; Bo, Choi

doi:10.1111/j.1399-0004.2011.01642.x

Cited by 11 publications

(9 citation statements)

References 32 publications

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“…The EC2 domain was a hotspot mutation domain and was affected in 44% of Korean patients,[40] which was more frequent compared to our patients. Mutations in the EC1 and EC2 domains of Cx32 were in 65% of the patients with Spanish or Portuguese descent.…”

Section: Discussionmentioning

confidence: 83%

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

Lyu

Jin

et al. 2017

Chinese Medical Journal

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Background:X-linked Charcot-Marie-Tooth type 1 (CMT1X) disease is one of the most common forms of inherited neuropathy caused by mutations in the gap junction beta-1 protein (GJB1) gene (also known as connexin 32). This study presented the clinical and genetic features of a series of Chinese patients with GJB1 gene mutations.Methods:A total of 22 patients from unrelated families, who were referred to Department of Neurology, Peking University First Hospital from January 2005 to January 2016, were identified with GJB1 mutations. Their clinical records and laboratory findings were retrospectively collected and reviewed. Mutations in the GJB1 gene were analyzed by targeted next-generation sequencing (NGS). Nucleotide alternations were confirmed with Sanger sequencing.Results:The CMT1X patients predominantly showed distal muscle weakness of lower limbs with mild sensory disturbance. The mean age of onset was 15.6 ± 8.7 years (ranging from 1 year to 42 years). The sudden onset of cerebral symptoms appeared in four patients (18.2%); two were initial symptoms. One case had constant central nervous system (CNS) signs. There were 19 different heterozygous mutations, including 15 known mutations and four novel mutations (c.115G>T, c.380T>A, c.263C>A, and c.818_819insGGGCT). Among the 22 Chinese patients with CMT1X, the frequency of the GJB1 mutation was 4.5% in transmembrane domain 1 (TM1), 4.5% in TM2, 22.7% in TM3, 9.1% in TM4, 4.5% in extracellular 1 (EC1), 27.3% in EC2, 9.1% in intracellular loop, 13.6% in the N-terminal domain, and 4.5% in the C-terminal domain. CMT1X with CNS impairment appeared in five (22.7%) of these patients.Conclusions:This study indicated that CNS impairment was not rare in Chinese CMT1X patients. Mutations in the EC2 domain of the GJB1 gene were hotspot in Chinese CMT1X patients.

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Section: Discussionmentioning

confidence: 83%

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

Lyu

Jin

et al. 2017

Chinese Medical Journal

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“…CMTX is divided into a dominant CMTX1 and four recessive CMTX 2–5 [3]. At present we think that CMTX1 is caused by mutation in the GJB1 gene on chromosome Xq13.1 at codes for the connexin 32 protein (Cx32).…”

Section: Resultsmentioning

confidence: 99%

Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report

et al. 2014

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BackgroundTransient white matter lesions have been rarely reported in X-linked Charcot-Marie-Tooth disease type 1.Case presentationWe describe a 15-year-old boy who presented transient and recurrent weakness of the limbs for 5 days. His mother, his mother’s mother and his mother’s sister presented pes cavus. MRI and electrophysiology were performed in the proband. Gap junction protein beta l gene was analyzed by PCR-sequencing in the proband and his parents. The electrophysiological studies showed a mixed demyelinating and axonal sensorimotor neuropathy. MRI showed white matter lesions in the internal capsule, corpus callosum and periventricular areas, which showed almost complete resolution after two months. T278G mutation in Gap junction protein beta l gene was detected in the proband and his mother.ConclusionThis case report highlights that the novel T278G mutation of Gap junction protein beta l maybe could result in X-linked Charcot-Marie-Tooth disease type 1 with predominant leucoencephalopathy. The white matter changes in MRI of X-linked Charcot-Marie-Tooth disease type 1 patient are reversible.

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“…More than 400 mutations in GJB1 have been found to be the underlying causes of CMTX1 in the Inherited Neuropathy Variant Browser (http://hihg.med.miami.edu/code/http/cmt/public_html/index.html#/) or in the Inherited Peripheral Neuropathies Mutation Database (http://www.molgen.vib-ua.be/CMTMutations/). Owing to the chromosomal location of the gene, clinical symptoms are more severe in the male patients (Siskind et al, ; Kim et al, ) . In affected women, the onset of symptoms is later than in men, and female patients are often asymptomatic.…”

Section: Introductionmentioning

confidence: 99%

Clinical characterization and genetic analysis of Korean patients with X‐linked Charcot‐Marie‐Tooth disease type 1

Hong

Park

et al. 2017

J Peripheral Nervous Sys

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Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel mutations. Ten mutations were found from two or more unrelated families. p.V95M was most frequently observed. The frequency of CMTX1 was 9.6% of total Korean CMT family and was 14.8% when calculated within genetically identified cases. Among 67 male and 61 female patients, 22 females were asymptomatic. A high-arched foot, ataxia, and tremor were observed in 87%, 41%, and 35% of the patients, respectively. In the male patients, functional disability scale, CMT neuropathy score, and compound muscle action potential of the median/ulnar nerves were more severely affected than in the female patients. This study provides a comprehensive summary of the clinical features and spectrum of GJB1 gene mutations in Korean CMTX1 patients.

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X‐linked dominant Charcot‐Marie‐Tooth disease with connexin 32 (Cx32) mutations in Koreans

Cited by 11 publications

References 32 publications

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease

Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report

Clinical characterization and genetic analysis of Korean patients with X‐linked Charcot‐Marie‐Tooth disease type 1

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