scholarly journals A novel de novo SPTAN1 nonsense variant causes hereditary motor neuropathy in a Chinese family

Brain ◽  
2020 ◽  
Author(s):  
Hai-Lin Dong ◽  
Lei Chen ◽  
Zhi-Ying Wu
Keyword(s):  
De Novo ◽  
Chinese Family ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy

scholarly journals Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy

Genes ◽  
2020 ◽  
Vol 11 (11) ◽  
pp. 1238
Author(s):  
Olga Mironovich ◽  
Elena Dadali ◽  
Sergey Malmberg ◽  
Tatyana Markova ◽  
Oxana Ryzhkova ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Clinical Presentation ◽  
De Novo ◽  
Clinical Manifestations ◽  
Motor Neuropathy ◽  
Rare Type ◽  
Hereditary Motor ◽  
Electrophysiological Testing ◽  
Hereditary Motor Neuropathy ◽  
De Novo Variant

Objective: To report the first de novo missense mutation in the SYT2 gene causing distal hereditary motor neuropathy. Methods: Genetic testing was carried out, including clinical exome sequencing for the proband and Sanger sequencing for the proband and his parents. We described the clinical and electrophysiological features found in the patient. Results: We reported a proband with a new de novo missense mutation, c.917C>T (p.Ser306Leu), in the C2B domain of SYT2. The clinical presentation was similar to that of phenotypes described in previous studies. A notable feature in our study was normal electrophysiological testing results of the patient. Conclusions: In this study we reinforced the association between SYT2 mutations and distal hereditary motor neuropathy. We also described the clinical presentation of the patient carrying this pathogenic variant and provided unusual results of electrophysiological testing. The results showed that a diagnosis of SYT2-associated neuropathy should be based on the similarity of clinical manifestations, rather than the results of electrophysiological testing.

A novel WARS mutation causes distal hereditary motor neuropathy in a Chinese family

Brain ◽  
2019 ◽  
Vol 142 (9) ◽  
pp. e49-e49 ◽  
Author(s):  
Jia-Qi Li ◽  
Hai-Lin Dong ◽  
Cong-Xin Chen ◽  
Zhi-Ying Wu
Keyword(s):  
Chinese Family ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy

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.

Distal hereditary motor neuropathy (DHMN): a new locus for an autosomal recessive form

2004 ◽  
Vol 9 (2) ◽  
pp. 122-123 ◽  
Author(s):  
ML Mostacciuolo ◽  
E Crestanello ◽  
F Boaretto ◽  
E Boscolo ◽  
M Liguori ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Autosomal Recessive Form ◽  
Recessive Form ◽  
Hereditary Motor Neuropathy

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

scholarly journals Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

2008 ◽  
Vol 40 (3) ◽  
pp. 304 ◽  
Author(s):  
Ki Wha Chung ◽  
Sang-Beom Kim ◽  
Sun Young Cho ◽  
Su Jin Hwang ◽  
Sun Wha Park ◽  
...  
Keyword(s):  
Heat Shock ◽  
Heat Shock Protein ◽  
Small Heat Shock Protein ◽  
Heat Shock Protein 27 ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Korean Patients ◽  
Hereditary Motor Neuropathy
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