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

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 fro...

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Bibliographic Details
Published in:Annals of clinical and translational neurology 2021-01, Vol.8 (1), p.266-270
Main Authors: Yuan, Ru‐Ying, Ye, Zi‐Ling, Zhang, Xiao‐Rong, Xu, Liu‐Qing, He, Jin
Format: Article
Language:English
Subjects:
Atrophy
Brief Communication
Brief Communications
Dehydrogenases
Mutation
Patients
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Summary: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.
ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.51268