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Case Reports
. 2022 Apr 18;15(1):88.
doi: 10.1186/s12920-022-01238-4.

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy

Majed Alluqmani  1 , Sulman Basit  2
Affiliations
Case Reports

Association of SORD mutation with autosomal recessive asymmetric distal hereditary motor neuropathy

Majed Alluqmani et al. BMC Med Genomics. .

Abstract

Background: The 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.

Methods: For 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.

Results: Clinical 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).

Conclusions: Interestingly, 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.

Keywords: Electromyography; Hereditary neuropathy; Nerve conduction; SORD mutation.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Pedigree of a family recruited for this study. A star indicates the family member whose DNA was available for the sequencing. Females are represented by circles and males by squares, those individuals with solid symbols have hereditary motor neuropathy while those with clear symbols are unaffected
See this image and copyright information in PMC

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