期刊
JOURNAL OF NEUROMUSCULAR DISEASES
卷 7, 期 2, 页码 137-143出版社
IOS PRESS
DOI: 10.3233/JND-200472
关键词
Aminoacyl-tRNA synthetases; Charcot-Marie-Tooth disease; distal hereditary motor neuropathy; Glycyl-tRNA synthetase; Next Generation Sequencing; peripheral neuropathies
资金
- Wellcome Centre for Mitochondrial Research [109915/Z/15/Z, 203105/Z/16/Z]
- Medical Research Council (UK) [MR/N025431/1]
- European Research Council [309548]
- Wellcome Trust Pathfinder Scheme [201064/Z/16/Z]
- Newton Fund (UK/Turkey) [MR/N027302/1]
Pathogenic variants in the Glycyl-tRNA synthetase gene cause the allelic disorders Charcot-Marie-Tooth disease type 2D and distal hereditary motor neuropathy type V. We describe clinical features in 8 unrelated patients found to have Glycyl-tRNA synthetase variants by Next Generation Sequencing. In addition to upper limb predominant symptoms, other presentations included failure to thrive, feeding difficulties and lower limb dominant symptoms. Variability in the age at testing ranged from 14 months to 59 years. The youngest being symptomatic from 3 months and ventilator-dependent. Sequence variants were reported as pathogenic, p.(Glu125Lys), p.(His472Arg); likely pathogenic, p.(His216Arg), p.(Gly327Arg), p.(Lys510Gln), p.(Met555Val); and of uncertain significance, p.(Arg27Pro). Our case series describes novel Glycyl-tRNA synthetase variants and demonstrates the clinical utility of Next Generation Sequencing testing for patients with hereditary neuropathy. Identification of novel variants by Next Generation Sequencing illustrates that there exists a wide spectrum of clinical features and supports the newer simplified classification of neuropathies.
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