Journal
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Volume 8, Issue 1, Pages 266-270Publisher
WILEY
DOI: 10.1002/acn3.51268
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Funding
- Joint Funds for the Innovation of Science and Technology of Fujian Province
- Key Clinical Specialty Discipline Construction Program of Fujian [2018Y9082, 2017Y9094]
- National Natural Science Foundation of China [81870902, U190520142, 8177123]
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The study confirmed SORD mutations as a causative factor for CMT and expanded the mutational and phenotypic spectrum of SORD-related CMT.
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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