Genetic analysis
Peripheral blood was collected and sent to the whole-exome sequencing
(Illumina HiSeq 4000, Illumina, San Diego, CA). The exons of CMT
2O-related genes were detected using the second-generation
high-throughput sequencing technology. To find the gene variation, the
sequencing data and the human reference GRCh37/hg19 were sequenced and
analyzed. These gene variations were annotated based on the standardized
bioinformatics algorithm flow, including Clinvar, dbSNP database, and
gnomAD database.