Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1

2017 ◽  
Vol 55 (4) ◽  
pp. 3546-3550 ◽  
Author(s):  
Tameemi Abdalla-Moady ◽  
Amir Peleg ◽  
Orit Sadeh ◽  
Khader Badarneh ◽  
Fuad Fares
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Frameshift Mutation ◽  
Disease Type ◽  
Causative Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Whole Exome ◽  
Tooth Disease

Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2

Neurogenetics ◽  
2019 ◽  
Vol 21 (2) ◽  
pp. 79-86
Author(s):  
Shan Lin ◽  
Liu-Qing Xu ◽  
Guo-Rong Xu ◽  
Ling-Ling Guo ◽  
Bi-Juan Lin ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Whole Exome ◽  
Tooth Disease

Whole exome sequencing identifies three recessive FIG4-mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease

2015 ◽  
Vol 25 (4) ◽  
pp. 359-360 ◽  
Author(s):  
Wladimir Bocca Vieira de Rezende Pinto ◽  
Acary Souza Bulle Oliveira ◽  
Paulo Victor Sgobbi de Souza
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Whole Exome ◽  
Tooth Disease

scholarly journals Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth disease

2014 ◽  
Vol 24 (8) ◽  
pp. 666-670 ◽  
Author(s):  
Manoj P. Menezes ◽  
Leigh Waddell ◽  
Guy M. Lenk ◽  
Simranpreet Kaur ◽  
Daniel G. MacArthur ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Whole Exome ◽  
Tooth Disease

Charcot-Marie-Tooth disease type 2CC due to a frameshift mutation of the neurofilament heavy polypeptide gene in an Austrian family

2019 ◽  
Vol 29 (5) ◽  
pp. 392-397 ◽  
Author(s):  
Elena Ikenberg ◽  
Peter Reilich ◽  
Angela Abicht ◽  
Corina Heller ◽  
Benedikt Schoser ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

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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