Journal
NPJ GENOMIC MEDICINE
Volume 6, Issue 1, Pages -Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41525-020-00165-6
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Funding
- Fundamental Research Funds for the Central Universities [2019XZZX001-01-04]
- research foundation for distinguished scholar of Zhejiang University [188020-1938 10101/089]
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The SORD gene has been identified as a causative gene for dHMN, with two novel variants and one known variant found in four Chinese dHMN families. Functional studies confirmed the pathogenicity of these variants.
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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