ArticleNeurogenetics2010
GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
Article in Neurogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- From BBB to PPP: Bioenergetic requirements and challenges for oligodendrocytes in health and disease.Journal of neurochemistry · 2025Review
- Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.European journal of neurology · 2025Article
- Mechanisms and Treatments in Demyelinating CMT.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- New structural variations responsible for Charcot-Marie-Tooth disease: The first two largeComputational and structural biotechnology journal · 2021Article
- Aberrant Splicing inBrain sciences · 2020Article
- Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.Journal of human genetics · 2020Article
- A Review of Copy Number Variants in Inherited Neuropathies.Current genomics · 2018Review
- Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.Orphanet journal of rare diseases · 2016Article
- The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Complex inheritance of ABCA4 disease: four mutations in a family with multiple macular phenotypes.Human genetics · 2016Article
- Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death.Molecular genetics & genomic medicine · 2016Article
- Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.Cell reports · 2015Article
- Analysis of the ABCA4 genomic locus in Stargardt disease.Human molecular genetics · 2014Article
- Genetic and clinical analysis of ABCA4-associated disease in African American patients.Human mutation · 2014Article
- The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.American journal of human genetics · 2014Article
- Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).Human molecular genetics · 2013Article
- How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?Brain research · 2012Review
- The role of gap junctions in Charcot-Marie-Tooth disease.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2011Article
- Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 2 countries.
Funding
Abstract
The X-linked form of Charcot-Marie-Tooth disease (CMTX) is the second most common form of this genetically heterogeneous inherited peripheral neuropathy. CMT1X is caused by mutations in the GJB1 gene. Most of the mutations causative for CMT1X are missense mutations. In addition, a few disease causative nonsense mutations and frameshift deletions that lead to truncated forms of the protein have also been reported to be associated with CMT1X. Previously, there have been reports of patients with deletions of the coding sequence of GJB1; however, the size and breakpoints of these deletions were not assessed. Here, we report five patients with deletions that range in size from 12.2 to 48.3 kb and that completely eliminate the entire coding sequence of the GJB1 gene, resulting in a null allele for this locus. Analyses of the breakpoints of these deletions showed that they are nonrecurrent and that they can be generated by different mechanisms. In addition to PMP22, GJB1 is the second CMT gene for which both point mutations and genomic rearrangements can cause a neuropathy phenotype, stressing the importance of CMT as a genomic disorder.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.