Frontiers in Genetics (Aug 2020)
A Novel Potentially Pathogenic Rare Variant in the DNAJC7 Gene Identified in Amyotrophic Lateral Sclerosis Patients From Mainland China
- Mengli Wang,
- Zhen Liu,
- Yanchun Yuan,
- Jie Ni,
- Wanzhen Li,
- Yiting Hu,
- Pan Liu,
- Xiaorong Hou,
- Ling Huang,
- Bin Jiao,
- Lu Shen,
- Lu Shen,
- Lu Shen,
- Lu Shen,
- Hong Jiang,
- Hong Jiang,
- Hong Jiang,
- Hong Jiang,
- Beisha Tang,
- Beisha Tang,
- Beisha Tang,
- Beisha Tang,
- Junling Wang,
- Junling Wang,
- Junling Wang,
- Junling Wang
Affiliations
- Mengli Wang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Zhen Liu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Yanchun Yuan
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Jie Ni
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Wanzhen Li
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Yiting Hu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Pan Liu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Xiaorong Hou
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Ling Huang
- Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China
- Bin Jiao
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Lu Shen
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Lu Shen
- Laboratory of Medical Genetics, Central South University, Changsha, China
- Lu Shen
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Lu Shen
- National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, China
- Hong Jiang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Hong Jiang
- Laboratory of Medical Genetics, Central South University, Changsha, China
- Hong Jiang
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Hong Jiang
- National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, China
- Beisha Tang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Beisha Tang
- Laboratory of Medical Genetics, Central South University, Changsha, China
- Beisha Tang
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Beisha Tang
- National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, China
- Junling Wang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, China
- Junling Wang
- Laboratory of Medical Genetics, Central South University, Changsha, China
- Junling Wang
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China
- Junling Wang
- National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, China
- DOI
- https://doi.org/10.3389/fgene.2020.00821
- Journal volume & issue
-
Vol. 11
Abstract
Variants in the DNAJC7 gene have been shown to be novel causes of amyotrophic lateral sclerosis (ALS). However, the contributions of DNAJC7 mutations in Asian ALS patients remain unclear. In this study, we screened rare pathogenic variants in the DNAJC7 gene in a cohort of 578 ALS patients from Mainland China. A novel, rare, putative pathogenic variant c.712A>G (p.R238G) was identified in one sporadic ALS patient. The carrier with this variant exhibited symptom onset at a relatively younger age and experienced rapid disease progression. Our results expand the pathogenic variant spectrum of DNAJC7 and indicate that variants in the DNAJC7 gene may also contribute to ALS in the Chinese population.
Keywords
