MORC2 p.R252W Mutant Axonal Charcot–Marie–Tooth Disease Causes Peripheral Neuropathies and Pathological Myofiber Destruction

Wang, Yaye; Han, Jingzhe; Zhang, Jinru; Wu, Yue; Song, Xueqin

doi:10.4274/balkanmedj.galenos.2022.2021-12-97

Cited by 2 publications

(1 citation statement)

References 2 publications

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“…In the past decade, progress in genome-wide association studies has identified several independent genetic loci of MORC2 for diseases. For instance, MORC2 mutations are associated with some disorders, 34 , 35 , 36 including Charcot-Marie-Tooth (CMT) disease, 37 , 38 , 39 , 40 , 41 spinal muscular atrophy, 24 , 42 , 43 and neurological disorders, 44 especially Charcot-Marie-Tooth disease type 2Z (CMT2Z), 38 , 45 thus allowing a better understanding of the genetic architecture of MORC2. Mounting evidence has shown that mutations in MORC2 may be strongly associated with the development of multiple cancers.…”

Section: Mutationmentioning

confidence: 99%

Oncogenic MORC2 in cancer development and beyond

et al. 2024

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Section: Mutationmentioning

confidence: 99%

Oncogenic MORC2 in cancer development and beyond

et al. 2024

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

Zhu,

Gao,

Zhu

et al. 2024

Front. Genet.

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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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MORC2 p.R252W Mutant Axonal Charcot–Marie–Tooth Disease Causes Peripheral Neuropathies and Pathological Myofiber Destruction

Cited by 2 publications

References 2 publications

Oncogenic MORC2 in cancer development and beyond

Oncogenic MORC2 in cancer development and beyond

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

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