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

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

NPJ genomic medicine (2021-01-06)
Hai-Lin Dong, Jia-Qi Li, Gong-Lu Liu, Hao Yu, Zhi-Ying Wu
ABSTRACT

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.

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Monoclonal Anti-Myc tag antibody produced in mouse, clone GT0002, affinity isolated antibody
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