Case Report: Charcot-marie-tooth disease caused by a de novo MORC2 gene mutation - novel insights into pathogenicity and treatment

被引:0
作者
Zhu, Feng [1 ]
Gao, Chengcheng [2 ]
Zhu, Xiangxiang [1 ]
Jiang, Huihua [1 ]
Huang, Mingchun [3 ]
Zhou, Yuanlin [1 ]
机构
[1] Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Dept Neurol, Taizhou, Peoples R China
[2] Dian Diagnost Grp Co Ltd, Zhejiang Key Lab Digital Technol Med Diagnost, Hangzhou, Peoples R China
[3] Wenzhou Med Univ, Taizhou Hosp Zhejiang Prov, Supply Room, Taizhou, Peoples R China
关键词
MORC2; lower limb weakness; charcot-marie-tooth disease; mecobalamin; coenzyme Q10; case report; MORC2; VARIANTS;
D O I
10.3389/fgene.2024.1400906
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy involving approximately 80 pathogenic genes. Whole-exome sequencing (WES) and confirmatory Sanger sequencing analysis was applied to identify the disease-causing mutations in a Chinese patient with lower limb weakness. We present an 18-year-old male with a 2.5-year history of progressive lower limb weakness and an unsteady gait. Upon admission, a physical examination revealed hands tremulousness, bilateral calf muscle wasting and weakness, pes cavus, and elevated serum creatine kinase (CK) levels. Electromyography demonstrated axonal neuropathy affecting both upper and lower limbs. A de novo heterozygous missense mutation was identified in the MORC2 gene, NM_001303256.3: c.1199A>G, NP_001290186.1: p.Gln400Arg. Consequently, these clinical and genetic findings suggested a diagnosis of hereditary peripheral neuropathy, CMT type 2Z. Oral mecobalamin and coenzyme Q10 was initiated as subsequent treatment. Our study firstly reports the MORC2 c.1199A>G mutation occurring de novo, highlighting its causal association with CMT2Z, and prompting its reclassification as likely pathogenic. Oral mecobalamin and coenzyme Q10 might be a potential treatment approach for early-stage CMT2Z. We recommend genetic testing for CMT patients to identify the genetic etiology, thereby improving clinical management and facilitating genetic counseling.
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