scholarly journals Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

2020 ◽  
Author(s):  
Keyword(s):  
Autosomal Recessive ◽  
Type A ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2

2016 ◽  
Vol 79 (4) ◽  
pp. 659-672 ◽  
Author(s):  
Yujiro Higuchi ◽  
Akihiro Hashiguchi ◽  
Junhui Yuan ◽  
Akiko Yoshimura ◽  
Jun Mitsui ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C

2018 ◽  
Vol 10 (1) ◽  
pp. 38-44
Author(s):  
Leema Reddy Peddareddygari ◽  
Kinsi Oberoi ◽  
Raji P. Grewal
Keyword(s):  
Genetic Analysis ◽  
Asian Indian ◽  
Autosomal Recessive ◽  
Disease Type ◽  
Sensory Loss ◽  
Tetratricopeptide Repeats ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
In Trans ◽  
Tooth Disease

Charcot-Marie-Tooth disease type 4C, an autosomal recessive genetic neuropathy, is caused by mutations in the SH3TC2 (SH3 domain and tetratricopeptide repeats 2) gene. Interestingly, although mutations in this gene have been observed in European gypsies, a population that originated in India, there are few publications describing Indian patients. We report our analysis of a 50-year-old woman of Asian Indian descent with onset of progressive distal weakness and sensory loss in childhood. A clinical examination revealed the presence of a neuropathy with pes cavus without spinal abnormalities. Electrophysiological testing confirmed a sensorimotor length-dependent neuropathy with demyelinating features. A genetic analysis revealed she carries 2 novel mutations, c.2488G>T variant (rs879254317) and c.731+5G>A variant (rs879254316), in the SH3TC2 gene. Further genetic testing demonstrated that her son is a carrier of the c.731+5G>A mutation. Our analysis confirms that this patient is a compound heterozygote inheriting these mutations, which are in trans, in an autosomal recessive pattern. Her son developed an episode of sciatic neuropathy with complete resolution. We hypothesize that in his case, haploinsufficiency caused by c.731+5G>A mutation may have predisposed him to the development of this focal neuropathy.

scholarly journals A homozygous SH3TC2 mutation in a Korean patient with Charcot–Marie–Tooth disease type 4C

2021 ◽  
Vol 26 (4) ◽  
pp. 835-837
Author(s):  
Je-Young Shin ◽  
Jong-Mok Lee
Keyword(s):  
Autosomal Recessive ◽  
Disease Type ◽  
Compound Heterozygous ◽  
Limb Weakness ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Slow Conduction ◽  
Whole Exome ◽  
Dependent Probe ◽  
Tooth Disease

Charcot–Marie–Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy associated with SH3TC2 mutations, resulting in slow conduction velocity via hypomyelination. The occurrence of CMT4C in demyelinating Charcot–Marie–Tooth (CMT) varies among ethnicities, and several variants have been reported as the founder mutation. In Korea, the incidence of CMT4C was calculated as approximately 2%, and all patients have compound heterozygous mutations, which is partly due to the prohibition of consanguineous marriage. Herein, we describe a 25-year-old male who presented a slowly progressive limb weakness and impaired vibration sensation. Whole-exome sequencing revealed homozygous variants c.929G>A of SH3TC2 after identifying negative multiplex ligation-dependent probe amplification results of PMP22. Based on our literature review, this is the first CMT4C patient with a homozygous variant with each allele inherited from both the parents.

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