ArticleBMC medical genomics2022
Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy.
Article in BMC medical genomics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 8 citations in OpenAlex.
- Association of Copper with Atherosclerosis and Treatment Strategies.Journal of cardiovascular translational research · 2025Review
- Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.Brain : a journal of neurology · 2025Article
- A novel mutation in SORD gene associated with distal hereditary motor neuropathies.BMC medical genomics · 2024Article
- No Association between theJournal of clinical medicine · 2022Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe aim of this study was to identify the underlying genetic defect in a family segregating autosomal recessive asymmetric hereditary motor neuropathy (HMN). Asymmetric HMN has not been associated earlier with SORD mutations.
methodsFor this study, we have recruited a family and collected blood samples from affected and normal individuals of a family. Detailed clinical examination and electrophysiological studies were carried out. Whole exome sequencing was performed to detect the underlying genetic defect in this family. The potential variant was validated using the Sanger sequencing approach.
resultsClinical and electrophysiological examination revealed asymmetric motor neuropathy with normal nerve conduction velocities and action potentials. Genetic analysis identified a homozygous mononucleotide deletion mutation (c.757delG) in a SORD gene in a patient. This mutation is predicted to cause premature truncation of a protein (p.A253Qfs*27).
conclusionsInterestingly, the patient with homozygous SORD mutation demonstrates normal motor and nerve conduction velocities and action potentials. The affected individual describes in this study has a unique presentation of asymmetric motor neuropathy predominantly affecting the right side more than the left as supported by the clinical examination. This is the first report of SORD mutation from Saudi Arabia and this study further expands the phenotypic spectrum of SORD mutation.
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