Genetic and clinical features of sorbitol dehydrogenase gene-related Charcot-Marie-Tooth disease in Chinese population
10.3760/cma.j.cn113694-20200511-00343
- VernacularTitle:中国人山梨醇脱氢酶基因相关腓骨肌萎缩症的基因型-表型分析
- Author:
Zhiqiang LIN
1
;
Xiaobo LI
;
Shunxiang HUANG
;
Huadong ZHAO
;
Lei LIU
;
Wanqian CAO
;
Xin LIU
;
Beisha TANG
;
Ruxu ZHANG
Author Information
1. 中南大学湘雅三医院神经内科，长沙 410013
- From:
Chinese Journal of Neurology
2020;53(11):882-887
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report the genetic and clinical features of sorbitol dehydrogenase (SORD) gene-related Charcot-Marie-Tooth disease (CMT) in Chinese population.Methods:Fifty-seven undiagnosed sporadic or autosomal recessive (AR) inherited CMT2 families were collected from the Department of Neurology of the Third Xiangya Hospital from 2009 through 2018 .Polymerase chain reaction combined with Sanger sequencing were used to detect the mutations of SORD gene, and the relative clinical features were summarized. Results:The homozygous SORD gene hot spot mutation c.757delG (p. Ala253GlnfsTer27) was detected in four sporadic patients, accounting for about 7% of the total. Two patients with CMT2 phenotype were characterized by progressive lower limb weakness and atrophy with electromyogram changes of axonal degeneration in both motor and sensory nerves. Two patients with distal hereditary motor neuropathy (dHMN) phenotype exhibited progressive lower limb weakness and atrophy with electromyogram changes of axonal degeneration in motor nerves only. The age of onset was between five and 16 years, and the CMT neuropathy score was 2-9.Conclusions:The homozygous hot spot mutation of SORD gene (c.757delG, p.Ala253GlnfsTer27), and related childhood or adolescence onset, mildly affected CMT2/dHMN phenotypes are firstly reported in Chinese population. SORD gene-related CMT might be the most common subtype of AR-CMT2.
