Case: 16 years diagnosis, Chinese

DiseaseAssertion: Charcot-Marie-Tooth disease

FamilyInfo: Mother（mild Pes Cavus）; Brother（Amyotrophy, Pes Cavus and so forth）

CasePresentingHPOs: HP:0001761, HP:0033526, HP:0001265

GenotypingMethod: Genomic DNA was extracted from the peripheral blood of the family members of a pedigree with autosomal dominant CMT disease, and 65 candidate genes of the proband were screened using target exon capture and the next generation sequencing, and the suspicious genes were verified using Sanger sequencing.

Variant: NM_018972.4:c.371A>G (p.Tyr124Cys)

CAID: CA371548535

gnomAD: NOT in gnomAD