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- Title
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
- Authors
Xie, Yongzhi; Lin, Zhiqiang; Pakhrin, Pukar Singh; Li, Xiaobo; Wang, Binghao; Liu, Lei; Huang, Shunxiang; Zhao, Huadong; Cao, Wanqian; Hu, Zhengmao; Guo, Jifeng; Shen, Lu; Tang, Beisha; Zhang, Ruxu
- Abstract
Background and Objectives: Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies. The objectives of this study were to report the clinical and genetic features of dHMN patients in a Chinese cohort. Aims and Methods: We performed clinical assessments and whole-exome sequencing in 24 dHMN families from Mainland China. We conducted a retrospective analysis of the data and investigated the frequency and clinical features of patients with a confirmed mutation. Results: Two novel heterozygous mutations in GARS , c.373G>C (p.E125Q) and c.1015G>A (p.G339R), were identified and corresponded to the typical dHMN-V phenotype. Together with families with WARS, SORD, SIGMAR1 , and HSPB1 mutations, 29.2% of families (7/24) acquired a definite genetic diagnosis. One novel heterozygous variant of uncertain significance, c.1834G>A (p.G612S) in LRSAM1 , was identified in a patient with mild dHMN phenotype. Conclusion: Our study expanded the mutation spectrum of GARS mutations and added evidence that GARS mutations are associated with both axonal Charcot-Marie-Tooth and dHMN phenotypes. Mutations in genes encoding aminoamide tRNA synthetase (ARS) might be a frequent cause of autosomal dominant-dHMN, and SORD mutation might account for a majority of autosomal recessive-dHMN cases. The relatively low genetic diagnosis yield indicated more causative dHMN genes need to be discovered.
- Subjects
CHINA; MOTOR neuron diseases; GENETIC mutation; HUMAN chromosome abnormality diagnosis; FAMILIES; GENETIC code; RECESSIVE genes; TRANSFER RNA
- Publication
Frontiers in Neurology, 2020, Vol 11, pN.PAG
- ISSN
1664-2295
- Publication type
Article
- DOI
10.3389/fneur.2020.603003