Charcot-Marie-Tooth disease type 2 caused by SORD gene mutation: a case report and literature review
10.3760/cma.j.cn113694-20240908-00613
- VernacularTitle:SORD基因突变所致腓骨肌萎缩症轴索型1例报告并文献复习
- Author:
Mingshan SONG
1
;
Yuhan BAI
;
Kangqin YANG
;
Wenhua DENG
;
Gang WU
;
Min ZHANG
;
Xin ZHAO
Author Information
1. 华中科技大学同济医学院附属同济医院神经内科，武汉430030
- Publication Type:Journal Article
- Keywords:
Charcot-Marie-Tooth diseases;
Peripheral nervous system diseases;
Hereditary sensory and motor neuropathy;
Mutation;
Phosphorus magnetic resonance spectro
- From:
Chinese Journal of Neurology
2025;58(6):650-657
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To report a Charcot-Marie-Tooth disease type 2 (CMT2) patient with SORD gene mutations, aiming to enhance the understanding of SORD gene-associated peripheral neuropathy. Methods:A CMT2 patient with SORD gene mutations was identified through whole exome sequencing in the Department of Neurology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January 2024, and the patients′ clinical features were elaborated in detail. 31-Phosphorus magnetic resonance spectroscopy ( 31P-MRS) was employed to assess the phosphorus profile of the limbs, and real-time quantitative reverse transcription polymerase chain reaction was utilized to detect peripheral blood SORD gene mRNA expression levels in the patient, the family members, and the normal control. Additionally, the genetic and clinical characteristics of SORD gene mutation-related CMT2 and distal hereditary motor neuropathy (dHMN) were reviewed by searching the CNKI and PubMed databases. Results:The male CMT2 patient was 15 years old, presented with early-onset lower limb muscle weakness and atrophy, hypoesthesia, reduced tendon reflexes, and flat feet. 31P-MRS examination indicated that the pH of the patient′s leg was lower than that of the upper limb. Whole exome sequencing showed the patient carrying complex heterozygous mutations c.757delG (p.Ala253GlnfsTer27) and c.218C>T (P.Ser73Leu) in the SORD gene. The mRNA expression of the SORD gene of the patient′s mother [0.623(0.614, 0.645)] was lower than that of the patient′s father [0.961(0.888,1.020), H=13.330, P=0.007] and normal people [1.001(0.917, 1.092), H=14.830, P=0.002]. Through literature review, it is found that 31 SORD gene mutations have been reported worldwide, among which c.757delG (p.Ala253GlnfsTer27) was found to be a hotspot mutation, and all patients exhibited an autosomal recessive inheritance pattern. Conclusions:A patient with CMT2 caused by a compound heterozygous mutation c.757delG/c.218C>T in the SORD gene, with the main clinical symptoms of bilateral lower limb weakness, atrophy, sensory disturbance and reduced tendon reflexes is reported. Furthermore, 31P-MRS of the extremities is anticipated to both early and sensitively detect muscle lesions in patients with hereditary peripheral neuropathy.
