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- W3120362948 abstract "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." @default.
- W3120362948 created "2021-01-18" @default.
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- W3120362948 date "2021-01-04" @default.
- W3120362948 modified "2023-09-26" @default.
- W3120362948 title "Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy" @default.
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- W3120362948 doi "https://doi.org/10.1038/s41525-020-00165-6" @default.
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