No Association between the <i>SORD</i> Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Recently a juvenile ALS patient was reported carrying the c.757delG mutation of the sorbitol dehydrogenase (<i>SORD</i>) gene, which was also a related mutation of Charcot-Marie-Tooth disease (CMT) and distal here...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-11-01
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| Series: | Journal of Clinical Medicine |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2077-0383/11/22/6834 |
| Summary: | Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. Recently a juvenile ALS patient was reported carrying the c.757delG mutation of the sorbitol dehydrogenase (<i>SORD</i>) gene, which was also a related mutation of Charcot-Marie-Tooth disease (CMT) and distal hereditary motor neuropathy (dHMN). ALS shares pathogenesis and overlapping genes with CMT and dHMN. We used whole-exome sequencing technology to screen the full-length <i>SORD</i> gene in 601 Chinese sporadic ALS patients and 174 controls without a history of neurological diseases. No <i>SORD</i> pathogenic variants were identified in the ALS patients. Our current results did not find an association between <i>SORD</i> and ALS in Chinese patients, and further studies will be required. |
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| ISSN: | 2077-0383 |