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.

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.

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 Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Hai-Lin Dong ◽  
Jia-Qi Li ◽  
Gong-Lu Liu ◽  
Hao Yu ◽  
Zhi-Ying Wu
Keyword(s):  
Ex Vivo ◽  
Protein Solubility ◽  
Chinese Patients ◽  
Hereditary Neuropathy ◽  
Motor Neuropathy ◽  
Causative Gene ◽  
Hereditary Motor ◽  
Functional Studies ◽  
Hereditary Motor Neuropathy

AbstractSorbitol dehydrogenase gene (SORD) has been identified as a novel causative gene of recessive forms of hereditary neuropathy, including Charcot–Marie–Tooth disease type 2 and distal hereditary motor neuropathy (dHMN). Our findings reveal two novel variants (c.404 A > G and c.908 + 1 G > C) and one known variant (c.757delG) within SORD in four Chinese dHMN families. Ex vivo cDNA polymerase chain reaction confirmed that c.908 + 1 G > C variant was associated with impaired splicing of the SORD transcript. In vitro cell functional studies showed that c.404 A > G variant resulted in aggregate formation of SORD and low protein solubility, confirming the pathogenicity of SORD variants. We have provided more evidence to establish SORD as a causative gene for dHMN.

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

Clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011054
Author(s):  
Herminia Argente-Escrig ◽  
Joshua Burns ◽  
Gabrielle Donlevy ◽  
Marina Frasquet ◽  
Kayla Cornett ◽  
...  
Keyword(s):  
Functional Limitations ◽  
Genetic Profile ◽  
Motor Neuropathy ◽  
Clinical Genetic ◽  
Hereditary Motor ◽  
Charcot Marie Tooth Disease ◽  
Pathogenic Variants ◽  
Hereditary Motor Neuropathy ◽  
Long Jump ◽  
One Year

Objective:To describe the clinical, genetic and disability profile of pediatric distal hereditary motor neuropathy (dHMN) and to determine the utility of an outcome measure validated for children with Charcot-Marie-Tooth disease (CMT) in assessing disability in this cohort.Methods:We reviewed the clinical, neurophysiologic, and disability data on individuals with dHMN, evaluated before the age of 20 years, at two tertiary neuromuscular clinics in Australia and Spain. Disability was assessed annually with the CMT Pediatric Scale (CMTPedS) in a subset of individuals.Results:Twenty-two children (13 females) from 19 families were included. 14 individuals were symptomatic in the first year of life. Intellectual disability was present in six individuals and upper motor neuron signs, in eight. Pathogenic variants were found in nine families, more frequently in BICD2 (BICD2-4, DYNC1H1-2, MFN2-2, GARS-1). A novel pathogenic variant in the GARS gene was detected and characterized phenotypically. Disability was moderate on the CMTPedS (mean [SD], 18.2 [6.3], n=16), with balance and long jump being the most affected and sensation items and grip strength, the least. Over one year the CMTPedS total score deteriorated, on average 1.5 points (SD 3.7) or 9% (n=12), with significant variability in the rate of progression within the cohort.Conclusions:The genetic profile of pediatric dHMN is different to that identified in adult cohorts. This study has identified distinct functional limitations on the CMTPedS in children and adolescents with dHMN.

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

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
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