An 8‐generation family with X‐linked Charcot–Marie–Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in <i>GJB1</i> and its clinical features

Chen, Donghui; Ma, Maxwell; Scavina, Mena; Blue, Elizabeth; Wolff, John; Karna, Prasanthi; Dorschner, Michael O.; Raskind, Wendy H.; Bird, Thomas D.

doi:10.1002/mus.26037

Cited by 3 publications

(2 citation statements)

References 16 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Furthermore, variants in the 3' UTR of GJB1 55,56 could impair stability of the mRNA transcript, resulting in reduced GJB1 protein translation 57 . In our case series, variants in the 5' and 3' UTRs of GJB1 accounted for 11.4% of all cases of CMTX1 55 .…”

Section: Transcriptome Sequencingmentioning

confidence: 99%

Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges

2019

View full text Add to dashboard Cite

Tooth disease and the related disorders hereditary motor neuropathy and hereditary sensory neuropathy, collectively termed CMT, are the commonest group of inherited neuromuscular diseases, and they exhibit wide phenotypic and genetic heterogeneity. CMT is usually characterized by distal muscle atrophy, often with foot deformity, weakness and sensory loss. In the past decade, next-generation sequencing (NGS) technologies have revolutionized genomic medicine, and as these technologies are being applied to clinical practice, they are changing our diagnostic approach to CMT. In this Review, we discuss the application of NGS technologies, including disease-specific gene panels, whole-exome sequencing (WES), wholegenome sequencing (WGS), mitochondrial sequencing and high-throughput transcriptome sequencing, to the diagnosis of CMT. We discuss the growing challenge of variant interpretation and consider how the clinical phenotype can be combined with genetic, bioinformatic and functional evidence to assess the pathogenicity of genetic variants in patients with CMT. WGS has several advantages over the other techniques that we discuss, which include unparalleled coverage of coding, non-coding and intergenic areas of both nuclear and mitochondrial genomes, the ability to identify 2 structural variants and the opportunity to perform genome-wide dense homozygosity mapping. We propose an algorithm for incorporating WGS into the CMT diagnostic pathway.

show abstract

Section: Transcriptome Sequencingmentioning

confidence: 99%

Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges

2019

View full text Add to dashboard Cite

show abstract

“…Estudos têm mostrado variantes genéticas dentro das 3´UTRs, em locais alvo de microRNA, causadoras ou associadas a um risco aumentado de doença (Annala et al 2018;Bandiera et al 2010;Chen et al 2018;Mir et al 2018…”

Section: Descrição Da Família 9 (Pacientes 9a E 9b)unclassified

Investigação por sequenciamento do exoma completo da etiologia genética da deficiência intelectual familial

Costa¹

View full text Add to dashboard Cite

New evidence for secondary axonal degeneration in demyelinating neuropathies

Moss

Bopp

Johnson

et al. 2021

Neuroscience Letters

View full text Add to dashboard Cite

An 8‐generation family with X‐linked Charcot–Marie–Tooth: Confirmation Of the pathogenicity Of a 3′ untranslated region mutation in GJB1 and its clinical features

Abstract: The c.*15C>T mutation in the GJB1 3' UTR segregates with CMTX1 in 8 generations. Penetrance in males and females is essentially complete. A straightforward genetic method to detect this mutation is described. Muscle Nerve 57: 859-862, 2018.

Cited by 3 publications

References 16 publications

Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges

Next-generation sequencing in Charcot–Marie–Tooth disease: opportunities and challenges

Investigação por sequenciamento do exoma completo da etiologia genética da deficiência intelectual familial

New evidence for secondary axonal degeneration in demyelinating neuropathies

Contact Info

Product

Resources

About