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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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Autores principales: Yuan, Ru‐Ying, Ye, Zi‐Ling, Zhang, Xiao‐Rong, Xu, Liu‐Qing, He, Jin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818235/
https://www.ncbi.nlm.nih.gov/pubmed/33314640
http://dx.doi.org/10.1002/acn3.51268
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author Yuan, Ru‐Ying
Ye, Zi‐Ling
Zhang, Xiao‐Rong
Xu, Liu‐Qing
He, Jin
author_facet Yuan, Ru‐Ying
Ye, Zi‐Ling
Zhang, Xiao‐Rong
Xu, Liu‐Qing
He, Jin
author_sort Yuan, Ru‐Ying
collection PubMed
description 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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spelling pubmed-78182352021-01-29 Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease Yuan, Ru‐Ying Ye, Zi‐Ling Zhang, Xiao‐Rong Xu, Liu‐Qing He, Jin Ann Clin Transl Neurol Brief Communications 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. John Wiley and Sons Inc. 2020-12-12 /pmc/articles/PMC7818235/ /pubmed/33314640 http://dx.doi.org/10.1002/acn3.51268 Text en © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communications
Yuan, Ru‐Ying
Ye, Zi‐Ling
Zhang, Xiao‐Rong
Xu, Liu‐Qing
He, Jin
Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease
title Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease
title_full Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease
title_fullStr Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease
title_full_unstemmed Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease
title_short Evaluation of SORD mutations as a novel cause of Charcot‐Marie‐Tooth disease
title_sort evaluation of sord mutations as a novel cause of charcot‐marie‐tooth disease
topic Brief Communications
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7818235/
https://www.ncbi.nlm.nih.gov/pubmed/33314640
http://dx.doi.org/10.1002/acn3.51268
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