scholarly journals A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yan-Yan Xue ◽  
Hao-Ling Cheng ◽  
Hai-Lin Dong ◽  
Hou-Min Yin ◽  
Yun Yuan ◽  
...  
Keyword(s):  
De Novo ◽  
Hypogonadotropic Hypogonadism ◽  
Chinese Patient ◽  
Sensory Loss ◽  
Neurological Involvement ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Progressive Muscle Weakness ◽  
Demyelinating Peripheral Neuropathy ◽  
Biallelic Mutations

Abstract Background Charcot-Marie-Tooth (CMT) disease is a group of inherited peripheral neuropathies, which are subdivided into demyelinating and axonal forms. Biallelic mutations in POLR3B are the well-established cause of hypomyelinating leukodystrophy, which is characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. To date, only one study has reported the demyelinating peripheral neuropathy phenotype caused by heterozygous POLR3B variants. Case presentation A 19-year-old male patient was referred to our hospital for progressive muscle weakness of the lower extremities. Physical examination showed muscle atrophy, sensory loss and deformities of the extremities. Nerve conduction studies and electromyography tests revealed sensorimotor demyelinating polyneuropathy with secondary axonal loss. Trio whole-exome sequencing revealed a de novo variant in POLR3B (c.3137G > A). Conclusions In this study, we report the case of a Chinese patient with a de novo variant in POLR3B (c.3137G > A), who manifested demyelinating CMT phenotype without additional neurological or extra-neurological involvement. This work is the second report on POLR3B-related CMT.

scholarly journals Recent Advances in Drosophila Models of Charcot-Marie-Tooth Disease

2020 ◽  
Vol 21 (19) ◽  
pp. 7419
Author(s):  
Fukiko Kitani-Morii ◽  
Yu-ichi Noto
Keyword(s):  
Genetic Testing ◽  
Clinical Symptoms ◽  
Sensory Loss ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Advantages And Disadvantages ◽  
Progressive Muscle Weakness ◽  
Recent Advances ◽  
Progressive Neurodegeneration ◽  
Tooth Disease

Charcot-Marie-Tooth disease (CMT) is one of the most common inherited peripheral neuropathies. CMT patients typically show slowly progressive muscle weakness and sensory loss in a distal dominant pattern in childhood. The diagnosis of CMT is based on clinical symptoms, electrophysiological examinations, and genetic testing. Advances in genetic testing technology have revealed the genetic heterogeneity of CMT; more than 100 genes containing the disease causative mutations have been identified. Because a single genetic alteration in CMT leads to progressive neurodegeneration, studies of CMT patients and their respective models revealed the genotype-phenotype relationships of targeted genes. Conventionally, rodents and cell lines have often been used to study the pathogenesis of CMT. Recently, Drosophila has also attracted attention as a CMT model. In this review, we outline the clinical characteristics of CMT, describe the advantages and disadvantages of using Drosophila in CMT studies, and introduce recent advances in CMT research that successfully applied the use of Drosophila, in areas such as molecules associated with mitochondria, endosomes/lysosomes, transfer RNA, axonal transport, and glucose metabolism.

Confirmation of the GNB4 gene as causal for Charcot–Marie–Tooth disease by a novel de novo mutation in a Czech patient

2017 ◽  
Vol 27 (1) ◽  
pp. 57-60 ◽  
Author(s):  
Petra Laššuthová ◽  
Dana Šafka Brožková ◽  
Jana Neupauerová ◽  
Marcela Krůtová ◽  
Radim Mazanec ◽  
...  
Keyword(s):  
De Novo ◽  
De Novo Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Czech Patient ◽  
Tooth Disease

scholarly journals Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease

PLoS ONE ◽  
2015 ◽  
Vol 10 (8) ◽  
pp. e0133423 ◽  
Author(s):  
Yi-Chu Liao ◽  
Yo-Tsen Liu ◽  
Pei-Chien Tsai ◽  
Chia-Ching Chang ◽  
Yen-Hua Huang ◽  
...  
Keyword(s):  
Early Onset ◽  
De Novo ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

A novel homozygous NDRG1 mutation in a Chinese patient with Charcot-Marie-Tooth disease 4D

2018 ◽  
Vol 53 ◽  
pp. 231-234
Author(s):  
Bin Chen ◽  
Songtao Niu ◽  
Na Chen ◽  
Hua Pan ◽  
Xingao Wang ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients

2020 ◽  
pp. jmedgenet-2019-106641 ◽  
Author(s):  
Michael Volodarsky ◽  
Jennifer Kerkhof ◽  
Alan Stuart ◽  
Michael Levy ◽  
Lauren I Brady ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Copy Number ◽  
Diagnostic Yield ◽  
Sensory Loss ◽  
Foot Deformities ◽  
Copy Number Analysis ◽  
Clinical Genetic ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

Charcot-Marie-Tooth disease (CMT) is one of the most common Mendelian disorders characterised by genetic heterogeneity, progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. In this report, we describe genetic testing data including comprehensive sequencing and copy number analysis of 34 CMT-related genes in a Canadian cohort of patients with suspected CMT. We have demonstrated a notable gender testing bias, with an overall diagnostic yield of 15% in males and 21% in females. We have identified a large number of novel pathogenic variants as well as variants of unknown clinical significance in CMT-related genes. In this largest to date analysis of gene CNVs in CMT, in addition to the common PMP22 deletion/duplication, we have described a significant contribution of pathogenic CNVs in several CMT-related genes. This study significantly expand the mutational spectrum of CMT genes, while demonstrating the clinical utility of a comprehensive sequence and copy number next-generation sequencing-based clinical genetic testing in patients with suspected diagnosis of CMT.

Origin of the de novo duplication in Charcot — Marie — Tooth disease type 1A: unequal nonsister chromatid exchange during spermatogenesis

1993 ◽  
Vol 2 (12) ◽  
pp. 2031-2035 ◽  
Author(s):  
Francisco Palau ◽  
Ann Löfgren ◽  
Peter De Jonghe ◽  
Sylvia Bort ◽  
Eva Nelis ◽  
...  
Keyword(s):  
De Novo ◽  
Disease Type ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

scholarly journals De novo PMP2mutations in families with type 1 Charcot–Marie–Tooth disease

Brain ◽  
2016 ◽  
Vol 139 (6) ◽  
pp. 1649-1656 ◽  
Author(s):  
William W. Motley ◽  
Paulius Palaima ◽  
Sabrina W. Yum ◽  
Michael A. Gonzalez ◽  
Feifei Tao ◽  
...  
Keyword(s):  
De Novo ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease

De novo mutation of Charcot-Marie-Tooth disease type IA

1997 ◽  
Vol 17 (1) ◽  
pp. 67-69
Author(s):  
Nobutada Tachi ◽  
Naoki Kozuka ◽  
Kazuhiro Ohya ◽  
Shunzo Chiba
Keyword(s):  
De Novo ◽  
Disease Type ◽  
De Novo Mutation ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Type Ia ◽  
Tooth Disease

A new point mutation affecting the fourth transmembrane domain of PMP22 results in severe, de novo Charcot-Marie-Tooth disease

1996 ◽  
Vol 97 (5) ◽  
pp. 685-687 ◽  
Author(s):  
R. Navon ◽  
Beth Seifried ◽  
Nitza Shoham Gal-On ◽  
Menachem Sadeh ◽  
N. Shoham Gal-On
Keyword(s):  
Point Mutation ◽  
Transmembrane Domain ◽  
De Novo ◽  
Charcot Marie Tooth ◽  
Charcot Marie Tooth Disease ◽  
Tooth Disease
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