Abstract
Over 70 different Charcot-Marie-Tooth disease (CMT)-associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient. Next-generation sequencing (NGS) technology allows cost-effective sequencing of large scale DNA, even entire exome (coding sequences) or whole genome and thus, NGS platform can be employed to effectively target a large number or all CMT-related genes for accurate diagnosis. This overview discusses how NGS can be strategically used for genetic diagnosis in patients with CMT or unexplained neuropathy. A comment is made to combine simple clinical and electrophysiological algorithm to assign patients to major CMT subtypes and then employ NGS to screen for all known mutations in the subtype-specific CMT gene panel.
| Original language | English |
|---|---|
| Pages (from-to) | 383-386 |
| Number of pages | 4 |
| Journal | Annals of Indian Academy of Neurology |
| Volume | 17 |
| Issue number | 4 |
| DOIs | |
| State | Published - Jan 1 2014 |
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Keywords
- CMT
- exome
- genetic testing
- genome
- next-generation sequencing
ASJC Scopus subject areas
- Clinical Neurology
Cite this
Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease. / Verma, Ashok.
In: Annals of Indian Academy of Neurology, Vol. 17, No. 4, 01.01.2014, p. 383-386.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Next-generation sequencing and genetic diagnosis of Charcot-Marie-Tooth disease
AU - Verma, Ashok
PY - 2014/1/1
Y1 - 2014/1/1
N2 - Over 70 different Charcot-Marie-Tooth disease (CMT)-associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient. Next-generation sequencing (NGS) technology allows cost-effective sequencing of large scale DNA, even entire exome (coding sequences) or whole genome and thus, NGS platform can be employed to effectively target a large number or all CMT-related genes for accurate diagnosis. This overview discusses how NGS can be strategically used for genetic diagnosis in patients with CMT or unexplained neuropathy. A comment is made to combine simple clinical and electrophysiological algorithm to assign patients to major CMT subtypes and then employ NGS to screen for all known mutations in the subtype-specific CMT gene panel.
AB - Over 70 different Charcot-Marie-Tooth disease (CMT)-associated genes have now been discovered and their number is growing. Conventional genetic testing for all CMT genes is cumbersome, expensive, and impractical in an individual patient. Next-generation sequencing (NGS) technology allows cost-effective sequencing of large scale DNA, even entire exome (coding sequences) or whole genome and thus, NGS platform can be employed to effectively target a large number or all CMT-related genes for accurate diagnosis. This overview discusses how NGS can be strategically used for genetic diagnosis in patients with CMT or unexplained neuropathy. A comment is made to combine simple clinical and electrophysiological algorithm to assign patients to major CMT subtypes and then employ NGS to screen for all known mutations in the subtype-specific CMT gene panel.
KW - CMT
KW - exome
KW - genetic testing
KW - genome
KW - next-generation sequencing
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UR - http://www.scopus.com/inward/citedby.url?scp=84911018537&partnerID=8YFLogxK
U2 - 10.4103/0972-2327.144004
DO - 10.4103/0972-2327.144004
M3 - Article
AN - SCOPUS:84911018537
VL - 17
SP - 383
EP - 386
JO - Annals of Indian Academy of Neurology
JF - Annals of Indian Academy of Neurology
SN - 0972-2327
IS - 4
ER -