The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V

Neurology ◽  
2006 ◽  
Vol 66 (11) ◽  
pp. 1721-1726 ◽  
Author(s):  
O. Dubourg ◽  
H. Azzedine ◽  
R. B. Yaou ◽  
J. Pouget ◽  
A. Barois ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Trna Synthetase ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy ◽  
Type V

scholarly journals Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V

2018 ◽  
Vol 2018 ◽  
pp. 1-4 ◽  
Author(s):  
Peter Chung ◽  
Hope Northrup ◽  
Misbah Azmath ◽  
Ricardo A. Mosquera ◽  
Shade Moody ◽  
...  
Keyword(s):  
Muscular Atrophy ◽  
Trna Synthetase ◽  
Motor Neuropathy ◽  
Inherited Disorders ◽  
Causative Gene ◽  
Hereditary Motor ◽  
Pathogenic Variants ◽  
Neurogenic Muscular Atrophy ◽  
Hereditary Motor Neuropathy ◽  
Type V

Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases. The exact cause for the observed clinical heterogeneity within the family is unknown. One explanation is that there are modifier genes that affect the phenotype. These cases highlight the possibility of considering pathogenic variants in the GARS gene as a potential cause of early onset axonal polyneuropathy with atypical presentation.

scholarly journals Exome Sequencing Identifies a REEP1 Mutation Involved in Distal Hereditary Motor Neuropathy Type V

2012 ◽  
Vol 91 (1) ◽  
pp. 139-145 ◽  
Author(s):  
Christian Beetz ◽  
Thomas R. Pieber ◽  
Nicole Hertel ◽  
Maria Schabhüttl ◽  
Carina Fischer ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy ◽  
Type V

Two novel mutations ofGARSin Korean families with distal hereditary motor neuropathy type V

2012 ◽  
Vol 17 (4) ◽  
pp. 418-421 ◽  
Author(s):  
Hye Jin Lee ◽  
Jin Park ◽  
Khriezanou Nakhro ◽  
Jin Mo Park ◽  
Yoon-Mi Hur ◽  
...  
Keyword(s):  
Motor Neuropathy ◽  
Novel Mutations ◽  
Hereditary Motor ◽  
Korean Families ◽  
Hereditary Motor Neuropathy ◽  
Type V

Phenotypic heterogeneity in hereditary motor neuropathy type V: a new case report series

2012 ◽  
Vol 112 (1) ◽  
pp. 57-64 ◽  
Author(s):  
Manuela Pennisi ◽  
Alberto Raggi ◽  
Rita Barone ◽  
Maria Muglia ◽  
Luigi Citrigno ◽  
...  
Keyword(s):  
Case Report ◽  
Phenotypic Heterogeneity ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy ◽  
Type V

Mutation Analysis of GARS and Genotype-Phenotype Correlation in CMT2D/HMN5A in Chinese Patients

2020 ◽  
Author(s):  
Bo Sun ◽  
Zhengqing He ◽  
Yanran Li ◽  
Hongfen Wang ◽  
Fei Yang ◽  
...  
Keyword(s):  
Peripheral Neuropathy ◽  
Muscular Atrophy ◽  
Trna Synthetase ◽  
Chinese Patients ◽  
Motor Neuropathy ◽  
Chinese Han ◽  
Spinal Muscular Atrophy Type ◽  
Detailed Medical History ◽  
Hereditary Motor Neuropathy ◽  
Type V

Abstract BackgroundCMT2D is a rare subtype of axonal CMT, caused by a variant of the glycyl-tRNA synthetase (GARS) gene which is also a disease-causing gene of distal spinal muscular atrophy type V (dSMA-V) or hereditary motor neuropathy 5A (HMN5A). There were only several cases reported in China, all lacking an epidemiological study of CMT2D/ HMN5A.Methods206 patients of Chinese Han descent, clinically diagnosed with inherited peripheral neuropathy (IPN), were recruited in this study from December 20, 2012 to July 31, 2019. All patients underwent a detailed medical history screening, a neurological examination, a laboratory examination, several electrophysiological studies, and genetic testing.ResultsA total of 206 unrelated patients underwent genetic analysis. Four variants of GARS from four different families were found, including c.794C > T (p.S265F), c.374A > G (p.E125G), c.1000A > T (p.I334F), and c.781T > G (p.Y261D), with the first three being considered pathogenic. For the three pathogenic variant carriers, one was diagnosed with CMT2D, while the two others were diagnosed with HMN5A.ConclusionGARS mutation is a rare outcome of inherited peripheral neuropathy and the phenotype tends to be CMT2D or HMN5A.

scholarly journals Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy

Neurology ◽  
2012 ◽  
Vol 78 (21) ◽  
pp. 1644-1649 ◽  
Author(s):  
Z. Zhao ◽  
A. Hashiguchi ◽  
J. Hu ◽  
Y. Sakiyama ◽  
Y. Okamoto ◽  
...  
Keyword(s):  
Trna Synthetase ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy

N88S mutation in the BSCL2 gene in a Serbian family with distal hereditary motor neuropathy type V or Silver syndrome

2010 ◽  
Vol 296 (1-2) ◽  
pp. 107-109 ◽  
Author(s):  
V. Rakočević-Stojanović ◽  
V. Milić-Rašić ◽  
S. Perić ◽  
J. Baets ◽  
V. Timmerman ◽  
...  
Keyword(s):  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy ◽  
Silver Syndrome ◽  
Type V

scholarly journals Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families

2020 ◽  
Vol 11 ◽  
Author(s):  
Yongzhi Xie ◽  
Zhiqiang Lin ◽  
Pukar Singh Pakhrin ◽  
Xiaobo Li ◽  
Binghao Wang ◽  
...  
Keyword(s):  
Clinical Features ◽  
Genetic Diagnosis ◽  
Mainland China ◽  
Trna Synthetase ◽  
Motor Neuropathy ◽  
Variant Of Uncertain Significance ◽  
Hereditary Motor ◽  
Genes Encoding ◽  
Hereditary Motor Neuropathy ◽  
Uncertain Significance

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.

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