Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants Article Swipe
Christopher J. Record
,
Mariola Skorupinska
,
Matilde Laurá
,
Alexander M. Rossor
,
Davide Pareyson
,
Chiara Pisciotta
,
Shawna Feely
,
Thomas E. Lloyd
,
Rita Horvàth
,
Reza Sadjadi
,
David N. Herrmann
,
Jun Li
,
David Walk
,
Sabrina W. Yum
,
Richard A. Lewis
,
John Day
,
Joshua Burns
,
Richard S. Finkel
,
Mario Saporta
,
Sindhu Ramchandren
,
Michael D. Weiss
,
Gyula Acsádi
,
Vera Fridman
,
Francesco Muntoni
,
Roy Poh
,
James M. Polke
,
Stephan Züchner
,
Michael E. Shy
,
Steven S. Scherer
,
Mary M. Reilly
,
Lisa Abreu
,
Kimberly A Anderson
,
Silvia Baratta
,
Debbie Berry
,
Julian Blake
,
Eleonora Cavalca
,
Kayla Cornett
,
Andrea Cortese
,
Gabrielle Donlevy
,
Amanda Dragon
,
Magdalena Dudziec
,
Katy Eichinger Tim Estilow
,
Valerie Ferment
,
Natalie Grant
,
Tiffany Grider
,
Emily Hyslop
,
Tara Jones
,
Nicole Kressin
,
Wendy Leon
,
Stefania Magri
,
Brett A. McCray
,
Manoj P. Menezes
,
Evelin Milev
,
Lindsey Parrott
,
Pooja P. Patel
,
Cláudia Brito Pires
,
Valeria Prada
,
Gita Ramdharry
,
Paola Saveri
,
Giulia Schirinzi
,
Rosemary Shy
,
Carly E. Siskind
,
Janet E. Sowden
,
Sydney Stork
,
Charlotte J. Sumner
,
Franco Taroni
,
Simone Thomas
,
Jennifer Twachtman‐Bassett
,
Nidia Villalpando
,
Dragan Vujović
,
Julie Wells
,
Elizabeth Wood
,
Riccardo Zuccarino
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awad187
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awad187
Charcot-Marie-Tooth disease (CMT) due to GJB1 variants (CMTX1) is the second most common form of CMT. It is an X-linked disorder characterized by progressive sensory and motor neuropathy with males affected more severely than females. Many reported GJB1 variants remain classified as variants of uncertain significance (VUS). In this large, international, multicentre study we prospectively collected demographic, clinical and genetic data on patients with CMT associated with GJB1 variants. Pathogenicity for each variant was defined using adapted American College of Medical Genetics criteria. Baseline and longitudinal analyses were conducted to study genotype-phenotype correlations, to calculate longitudinal change using the CMT Examination Score (CMTES), to compare males versus females, and pathogenic/likely pathogenic (P/LP) variants versus VUS. We present 387 patients from 295 families harbouring 154 variants in GJB1. Of these, 319 patients (82.4%) were deemed to have P/LP variants, 65 had VUS (16.8%) and three benign variants (0.8%; excluded from analysis); an increased proportion of patients with P/LP variants compared with using ClinVar’s classification (74.6%). Male patients (166/319, 52.0%, P/LP only) were more severely affected at baseline. Baseline measures in patients with P/LP variants and VUS showed no significant differences, and regression analysis suggested the disease groups were near identical at baseline. Genotype-phenotype analysis suggested c.-17G>A produces the most severe phenotype of the five most common variants, and missense variants in the intracellular domain are less severe than other domains. Progression of disease was seen with increasing CMTES over time up to 8 years follow-up. Standard response mean (SRM), a measure of outcome responsiveness, peaked at 3 years with moderate responsiveness [change in CMTES (ΔCMTES) = 1.3 ± 2.6, P = 0.00016, SRM = 0.50]. Males and females progressed similarly up to 8 years, but baseline regression analysis suggested that over a longer period, females progress more slowly. Progression was most pronounced for mild phenotypes (CMTES = 0–7; 3-year ΔCMTES = 2.3 ± 2.5, P = 0.001, SRM = 0.90). Enhanced variant interpretation has yielded an increased proportion of GJB1 variants classified as P/LP and will aid future variant interpretation in this gene. Baseline and longitudinal analysis of this large cohort of CMTX1 patients describes the natural history of the disease including the rate of progression; CMTES showed moderate responsiveness for the whole group at 3 years and higher responsiveness for the mild group at 3, 4 and 5 years. These results have implications for patient selection for upcoming clinical trials.
Related Topics
Concepts
Missense mutation
Genotype
Disease
Phenotype
Genetic variants
Genetics
Internal medicine
Medicine
Longitudinal study
Biology
Gene
Pathology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/brain/awad187
- https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad187/50883278/awad187.pdf
- OA Status
- bronze
- Cited By
- 29
- References
- 68
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4379600435
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4379600435Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1093/brain/awad187Digital Object Identifier
- Title
-
Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variantsWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2023Year of publication
- Publication date
-
2023-06-07Full publication date if available
- Authors
-
Christopher J. Record, Mariola Skorupinska, Matilde Laurá, Alexander M. Rossor, Davide Pareyson, Chiara Pisciotta, Shawna Feely, Thomas E. Lloyd, Rita Horvàth, Reza Sadjadi, David N. Herrmann, Jun Li, David Walk, Sabrina W. Yum, Richard A. Lewis, John Day, Joshua Burns, Richard S. Finkel, Mario Saporta, Sindhu Ramchandren, Michael D. Weiss, Gyula Acsádi, Vera Fridman, Francesco Muntoni, Roy Poh, James M. Polke, Stephan Züchner, Michael E. Shy, Steven S. Scherer, Mary M. Reilly, Lisa Abreu, Kimberly A Anderson, Silvia Baratta, Debbie Berry, Julian Blake, Eleonora Cavalca, Kayla Cornett, Andrea Cortese, Gabrielle Donlevy, Amanda Dragon, Magdalena Dudziec, Katy Eichinger Tim Estilow, Valerie Ferment, Natalie Grant, Tiffany Grider, Emily Hyslop, Tara Jones, Nicole Kressin, Wendy Leon, Stefania Magri, Brett A. McCray, Manoj P. Menezes, Evelin Milev, Lindsey Parrott, Pooja P. Patel, Cláudia Brito Pires, Valeria Prada, Gita Ramdharry, Paola Saveri, Giulia Schirinzi, Rosemary Shy, Carly E. Siskind, Janet E. Sowden, Sydney Stork, Charlotte J. Sumner, Franco Taroni, Simone Thomas, Jennifer Twachtman‐Bassett, Nidia Villalpando, Dragan Vujović, Julie Wells, Elizabeth Wood, Riccardo ZuccarinoList of authors in order
- Landing page
-
https://doi.org/10.1093/brain/awad187Publisher landing page
- PDF URL
-
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad187/50883278/awad187.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awad187/50883278/awad187.pdfDirect OA link when available
- Concepts
-
Missense mutation, Genotype, Disease, Phenotype, Genetic variants, Genetics, Internal medicine, Medicine, Longitudinal study, Biology, Gene, PathologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
29Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 15, 2024: 12, 2023: 2Per-year citation counts (last 5 years)
- References (count)
-
68Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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| institutions_distinct_count | 73 |
| corresponding_institution_ids | https://openalex.org/I4210151618, https://openalex.org/I45129253 |
| citation_normalized_percentile.value | 0.96436377 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |