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

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 &g...

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Autores principales:	Hai-Lin Dong, Jia-Qi Li, Gong-Lu Liu, Hao Yu, Zhi-Ying Wu
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/16f9d9bdfe284a10959058de45bf4c41
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spelling	oai:doaj.org-article:16f9d9bdfe284a10959058de45bf4c412021-12-02T15:14:09ZBiallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy10.1038/s41525-020-00165-62056-7944https://doaj.org/article/16f9d9bdfe284a10959058de45bf4c412021-01-01T00:00:00Zhttps://doi.org/10.1038/s41525-020-00165-6https://doaj.org/toc/2056-7944Abstract 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.Hai-Lin DongJia-Qi LiGong-Lu LiuHao YuZhi-Ying WuNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Hai-Lin Dong Jia-Qi Li Gong-Lu Liu Hao Yu Zhi-Ying Wu Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
description	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.
format	article
author	Hai-Lin Dong Jia-Qi Li Gong-Lu Liu Hao Yu Zhi-Ying Wu
author_facet	Hai-Lin Dong Jia-Qi Li Gong-Lu Liu Hao Yu Zhi-Ying Wu
author_sort	Hai-Lin Dong
title	Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
title_short	Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
title_full	Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
title_fullStr	Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
title_full_unstemmed	Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy
title_sort	biallelic sord pathogenic variants cause chinese patients with distal hereditary motor neuropathy
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/16f9d9bdfe284a10959058de45bf4c41
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Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

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