摘要目的:报道1例由 SORD基因突变导致的腓骨肌萎缩症轴索型（CMT2）患者，旨在提高对 SORD基因相关周围神经病变的认识。 方法:通过全外显子组测序确诊1例于2024年1月在华中科技大学同济医学院附属同济医院神经内科就诊的 SORD基因突变导致的CMT2患者，详细描述其临床特征。通过 31磷-磁共振波谱（ 31P-MRS）检查评估患者四肢的磷谱，利用实时荧光定量逆转录聚合酶链反应检测患者、家系成员及正常对照者外周血 SORD基因mRNA表达水平。此外，通过检索中国知网和PubMed数据库，对 SORD基因突变相关CMT2和远端型遗传性运动神经病（dHMN）的遗传和临床特征进行文献综述。 结果:本例患者为男性，15岁，主要表现为青年起病的下肢肌肉无力和萎缩、浅感觉减退、腱反射减弱和扁平足。 31P-MRS检查结果显示患者腿部pH值较上肢减低。全外显子组测序结果显示 SORD基因复合杂合突变c.757delG（p.Ala253GlnfsTer27）和c.218C>T（p.Ser73Leu）。患者母亲 SORD基因的mRNA表达量［0.623（0.614，0.645）］较正常对照［1.001（0.917，1.092）， H=14.830， P=0.002］及患者父亲［0.961（0.888，1.020）， H=13.330， P=0.007］减低。经文献复习发现目前全世界共报道了 SORD基因31种突变，其中c.757delG（p.Ala253GlnfsTer27）为热点突变，患者均表现为常染色体隐性遗传方式。 结论:本研究报道了1例 SORD基因复合杂合突变c.757delG/c.218C>T导致的CMT2患者，主要临床表现为双下肢无力、肌萎缩和浅感觉减退。四肢 31P-MRS检查有望早期、敏感地发现遗传性周围神经病患者的肌肉病变。

abstractsObjective: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.