Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease
RY Yuan, ZL Ye, XR Zhang, LQ Xu… - Annals of clinical and …, 2021 - Wiley Online Library
RY Yuan, ZL Ye, XR Zhang, LQ Xu, J He
Annals of clinical and translational neurology, 2021•Wiley Online LibraryBiallelic 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 …
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 …
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.
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