Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot–Marie–Tooth disease
Abstract Charcot–Marie–Tooth disease (CMT) is genetically heterogeneous and
classification based on motor nerve conduction velocity and inheritance is used to direct
genetic testing. With the less common genetic forms of CMT, identifying the causative
genetic mutation by Sanger sequencing of individual genes can be time-consuming and
costly. Next-generation sequencing technologies show promise for clinical testing in
diseases where a similar phenotype is caused by different genes. We report the unusual …
classification based on motor nerve conduction velocity and inheritance is used to direct
genetic testing. With the less common genetic forms of CMT, identifying the causative
genetic mutation by Sanger sequencing of individual genes can be time-consuming and
costly. Next-generation sequencing technologies show promise for clinical testing in
diseases where a similar phenotype is caused by different genes. We report the unusual …