Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease

Ru-Ying Yuan; Zi-Ling Ye; Xiao-Rong Zhang; Liu-Qing Xu; Jin He

doi:10.1002/acn3.51268

Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease

Ann Clin Transl Neurol. 2021 Jan;8(1):266-270. doi: 10.1002/acn3.51268. Epub 2020 Dec 12.

Authors

Ru-Ying Yuan¹, Zi-Ling Ye¹, Xiao-Rong Zhang¹, Liu-Qing Xu¹, Jin He¹

Affiliation

¹ Department of Neurology and Institute of Neurology, First Affiliated Hospital, Institute of Neuroscience, Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China.

Abstract

Biallelic mutations in the sorbitol dehydrogenase (SORD) encoding gene were recently identified as a common genetic cause in autosomal-recessive CMT patients. Here, we investigated the clinical, genetic, and electrophysiological characteristics of three CMT patients with biallelic SORD mutations from a Chinese cohort. Two patients harbored c.757delG (p.A253Qfs*27) homozygous mutations, and one patient carried both c.757delG (p.A253Qfs*27) and c.625C>T (p.R209X) compound heterozygous mutations. Interestingly, the two patients homozygous for the c.757delG mutation exhibited positive responses for pinprick test. In conclusion, we confirmed SORD mutations as causative for CMT and further expanded the mutational and phenotypic spectrum of SORD-related CMT.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Asian People / genetics
Charcot-Marie-Tooth Disease / genetics*
Female
Humans
L-Iditol 2-Dehydrogenase / genetics*
Male
Mutation
Young Adult

Substances

L-Iditol 2-Dehydrogenase

Grants and funding

This work was funded by the Joint Funds for the Innovation of Science and Technology of Fujian Province, the Key Clinical Specialty Discipline Construction Program of Fujian (N.W.) grants 2018Y9082 and 2017Y9094; National Natural Science Foundation of China grants 81870902, U190520142, and 8177123.