Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

Sorbitol dehydrogenase gene ( SORD ) has been identified as a novel causative gene of recessive forms of hereditary neuropathy, including Charcot–Marie–Tooth disease type 2 and distal hereditary motor neuropathy (dHMN). Our findings reveal two novel variants (c.404 A > G and c.908 + 1 G > C) a...

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Bibliographic Details
Published in:Npj genomic medicine 2021-01, Vol.6 (1), p.1-1, Article 1
Main Authors: Dong, Hai-Lin, Li, Jia-Qi, Liu, Gong-Lu, Yu, Hao, Wu, Zhi-Ying
Format: Article
Language:English
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692/4017
692/699/375/430
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Bioinformatics
Biomedical and Life Sciences
Biomedicine
Brief Communication
Dehydrogenases
Gene Function
Gene Therapy
Genes
Human Genetics
Internal Medicine
Neurology
Neurosciences
Patients
Polymerase chain reaction
Protein expression
Proteins
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Summary:Sorbitol dehydrogenase gene ( SORD ) has been identified as a novel causative gene of recessive forms of hereditary neuropathy, including Charcot–Marie–Tooth disease type 2 and distal hereditary motor neuropathy (dHMN). Our findings reveal two novel variants (c.404 A > G and c.908 + 1 G > C) and one known variant (c.757delG) within SORD in four Chinese dHMN families. Ex vivo cDNA polymerase chain reaction confirmed that c.908 + 1 G > C variant was associated with impaired splicing of the SORD transcript. In vitro cell functional studies showed that c.404 A > G variant resulted in aggregate formation of SORD and low protein solubility, confirming the pathogenicity of SORD variants. We have provided more evidence to establish SORD as a causative gene for dHMN.
ISSN:2056-7944
2056-7944
DOI:10.1038/s41525-020-00165-6