Analysis of a Chinese Charcot-Marie-Tooth disease type 2D pedigree

Abstract

Objective: To achieve definite diagnosis in a clinically diagnosed Charcot-Marie-Tooth disease (CMT) pedigree and broaden the mutational diversity of CMT-related mutations in Chinese Han population. Methods: Patients clinically diagnosed with CMT were recruited from Department of Neurology, Chinese PLA General Hospital between December, 2012 to June, 2016. Clinical examination, laboratory tests, nerve conduction studies, and molecular and bioinformatics analyses were performed on a clinically diagnosed CMT pedigree. Results: In the pedigree, a GARS mutation (c.794C>T, p. S265F) was identified and CMT2D was diagnosed. Conclusion: The newly identified GARS mutation has broaden the mutational diversity of CMT2D in Chinese Han population.