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

scholarly journals A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation

2019 ◽  
Vol 58 (14) ◽  
pp. 2091-2093
Author(s):  
Kazuki Kanemaru ◽  
Go Ogawa ◽  
Hitoshi Mochizuki ◽  
Masamitsu Nakazato ◽  
Kazutake Shiomi
Keyword(s):  
Vocal Fold ◽  
Sporadic Case ◽  
Disease Type ◽  
Mitofusin 2 ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Vocal Fold Palsy ◽  
Tooth Disease

scholarly journals Rapid detection of a recombinant hotspot associated with Charcot–Marie–Tooth disease type 1A duplication by a PCR-based DNA test

1998 ◽  
Vol 44 (2) ◽  
pp. 270-274 ◽  
Author(s):  
Jan-Gowth Chang ◽  
Yuh-Jyh Jong ◽  
Wen-Pin Wang ◽  
Jyh-Chwan Wang ◽  
Chaur-Jong Hu ◽  
...  
Keyword(s):  
Rapid Detection ◽  
Disease Type ◽  
Chinese Patients ◽  
Charcot Marie Tooth ◽  
Dna Test ◽  
Charcot Marie Tooth Disease ◽  
Repeat Sequences ◽  
Tooth Disease

Abstract A 1.5-Mb duplication on chromosome 17p11.2-p12 (CMT1A duplication) caused by a misalignment of the CMT1A repeat sequences (CMT1A-REPs) is associated with Charcot–Marie–Tooth disease type 1A (CMT1A). A hotspot of crossover breakpoints located in a 3.2-kb region of the CMT1A-REPs accounts for three-quarters of the rearrangements in CMT1A patients. We developed a PCR-based diagnostic method to detect a recombination hotspot associated with the CMT1A duplication. Thirty-one CMT1A Chinese patients from different families and 50 healthy people over 65 years of age were studied. Twenty-seven of the 31 cases demonstrated the 3.2-kb hotspot crossover, of which there were two subgroups. The type 1 crossover breakpoint was located at the distal CMT1A-REP around the PmeI site, and accounted for 24 of the 27 cases with a 3.2-kb hotspot crossover in CMT1A duplication patients. The type 2 crossover breakpoint was located at the distal CMT1A-REP around the base 3625 region, accounting for 3 of the 27 cases. The results correlated very well with the results of Southern transfer analysis. This study has a potentially important role in the diagnosis of CMT1A disease.

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