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 ◽  
...  
2019 ◽  
Vol 6 (9) ◽  
pp. 1728-1738 ◽  
Author(s):  
Daojun Hong ◽  
Pu Fang ◽  
Sheng Yao ◽  
Juanjuan Chen ◽  
Xiaolei Zhang ◽  
...  

Neurology ◽  
1992 ◽  
Vol 42 (9) ◽  
pp. 1755-1755 ◽  
Author(s):  
A. A.W.M. Gabreels-Festen ◽  
F.J.M. Gabreels ◽  
F. G.I. Jennekens ◽  
E. M.G. Joosten ◽  
T. W.J.-v. Kempen

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Hai-Lin Dong ◽  
Jia-Qi Li ◽  
Gong-Lu Liu ◽  
Hao Yu ◽  
Zhi-Ying Wu

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.


Science ◽  
1994 ◽  
Vol 264 (5165) ◽  
pp. 1599-1601 ◽  
Author(s):  
A. Chan ◽  
T. Kadlecek ◽  
M. Elder ◽  
A. Filipovich ◽  
W. Kuo ◽  
...  

1984 ◽  
Vol 4 (1) ◽  
pp. 45-48 ◽  
Author(s):  
Mustafa Abdalla M. Salih ◽  
Assadour Ekmejian ◽  
Mohamed Ibrahim A. Omer

2018 ◽  
Vol 55 (12) ◽  
pp. 814-823 ◽  
Author(s):  
Vincenzo Lupo ◽  
Marina Frasquet ◽  
Ana Sánchez-Monteagudo ◽  
Ana Lara Pelayo-Negro ◽  
Tania García-Sobrino ◽  
...  

BackgroundMutations in the metalloendopeptidase (MME) gene were initially identified as a cause of autosomal recessive Charcot-Marie-Tooth disease type 2 (CMT2). Subsequently, variants in MME were linked to other late-onset autosomal dominant polyneuropathies. Thus, our goal was to define the phenotype and mode of inheritance of patients carrying changes in MME.MethodsWe screened 197 index cases with a hereditary neuropathy of the CMT type or distal hereditary motor neuropathy (dHMN) and 10 probands with familial amyotrophic lateral sclerosis (fALS) using a custom panel of 119 genes. In addition to the index case subjects, we also studied other clinically and/or genetically affected and unaffected family members.ResultsWe found 17 variants in MME in a total of 20 index cases, with biallelic MME mutations detected in 13 cases from nine families (three in homozygosis and six in compound heterozygosis) and heterozygous variants found in 11 families. All patients with biallelic variants had a similar phenotype, consistent with late-onset axonal neuropathy. Conversely, the phenotype of patients carrying heterozygous mutations was highly variable [CMT type 1 (CMT1), CMT2, dHMN and fALS] and mutations did not segregate with the disease.ConclusionMME mutations that segregate in an autosomal recessive pattern are associated with a late-onset CMT2 phenotype, yet we could not demonstrate that MME variants in heterozygosis cause neuropathy. Our data highlight the importance of establishing an accurate genetic diagnosis in patients carrying MME mutations, especially with a view to genetic counselling.


2006 ◽  
Vol 140A (14) ◽  
pp. 1504-1510 ◽  
Author(s):  
Anna Rajab ◽  
Seung-Yun Yoo ◽  
Aiman Abdulgalil ◽  
Salem Kathiri ◽  
Riaz Ahmed ◽  
...  

2012 ◽  
Vol 91 (1) ◽  
pp. 139-145 ◽  
Author(s):  
Christian Beetz ◽  
Thomas R. Pieber ◽  
Nicole Hertel ◽  
Maria Schabhüttl ◽  
Carina Fischer ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document