Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene‐Related Demyelinating Peripheral Neuropathy
ABSTRACT Background Autosomal recessive mutations in the SH3TC2 gene cause Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy. Methods In this nationwide observational retrospective study involving 27 French University Hospitals, we analyzed the clinical, electrophysiological, a...
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| Published in | European journal of neurology Vol. 32; no. 8; pp. e70313 - n/a |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
England
John Wiley & Sons, Inc
01.08.2025
Wiley |
| Series | European Journal of Neurology |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1351-5101 1468-1331 1468-1331 |
| DOI | 10.1111/ene.70313 |
Cover
| Abstract | ABSTRACT
Background
Autosomal recessive mutations in the SH3TC2 gene cause Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy.
Methods
In this nationwide observational retrospective study involving 27 French University Hospitals, we analyzed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with homozygous and compound heterozygous SH3TC2 gene mutations identified between 2003 and 2023.
Results
Mean age was 42 years (2–80), and 49% of patients were female. Mean age at disease onset was 14 years (0–52), 60% of patients started the disease before age 10 years, and 24% after age 20 years. Patients presented with distal motor weakness (93% of cases), sensory loss (86%), foot deformities (83%), scoliosis (73%), proximal limb weakness (40%), cranial nerve involvement (48%), hearing loss (37%), scoliosis‐related respiratory insufficiency (14%), and genitourinary disorders (6%). Half the patients (48%) walked independently before age 50 years, in contrast with only 13% after age 50 years. After age 50 years, 23% of patients were wheelchair‐bound. Nerve conduction studies showed sensorimotor abnormalities within the demyelinating range in all cases. We identified 56 different pathogenic variants in the SH3TC2 gene, including 22 previously undescribed. Patients with two SH3TC2 gene truncating variants had more severe symptoms than patients with one or zero truncating variants.
Interpretation
This study shows CMT4C is a severe childhood‐ and adult‐onset demyelinating peripheral neuropathy often associated with scoliosis, hearing loss, and ambulation loss in a significant proportion of patients after age 50 years. Genotype–phenotype correlations suggest two truncating SH3TC2 gene variants cause a more severe phenotype.
We analysed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with SH3TC2 gene mutations identified in 27 French University Hospitals causing Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy. This study shows CMT4C is a severe childhood‐ and adult‐onset demyelinating peripheral neuropathy often associated with scoliosis, hearing loss, and ambulation loss in a significant proportion of patients after age 50 years. Genotype–phenotype correlations suggest two truncating SH3TC2 gene variants cause a more severe phenotype. |
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| AbstractList | Autosomal recessive mutations in the SH3TC2 gene cause Charcot-Marie-Tooth type 4C (CMT4C) demyelinating peripheral neuropathy.
In this nationwide observational retrospective study involving 27 French University Hospitals, we analyzed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with homozygous and compound heterozygous SH3TC2 gene mutations identified between 2003 and 2023.
Mean age was 42 years (2-80), and 49% of patients were female. Mean age at disease onset was 14 years (0-52), 60% of patients started the disease before age 10 years, and 24% after age 20 years. Patients presented with distal motor weakness (93% of cases), sensory loss (86%), foot deformities (83%), scoliosis (73%), proximal limb weakness (40%), cranial nerve involvement (48%), hearing loss (37%), scoliosis-related respiratory insufficiency (14%), and genitourinary disorders (6%). Half the patients (48%) walked independently before age 50 years, in contrast with only 13% after age 50 years. After age 50 years, 23% of patients were wheelchair-bound. Nerve conduction studies showed sensorimotor abnormalities within the demyelinating range in all cases. We identified 56 different pathogenic variants in the SH3TC2 gene, including 22 previously undescribed. Patients with two SH3TC2 gene truncating variants had more severe symptoms than patients with one or zero truncating variants.
This study shows CMT4C is a severe childhood- and adult-onset demyelinating peripheral neuropathy often associated with scoliosis, hearing loss, and ambulation loss in a significant proportion of patients after age 50 years. Genotype-phenotype correlations suggest two truncating SH3TC2 gene variants cause a more severe phenotype. Autosomal recessive mutations in the SH3TC2 gene cause Charcot-Marie-Tooth type 4C (CMT4C) demyelinating peripheral neuropathy.BACKGROUNDAutosomal recessive mutations in the SH3TC2 gene cause Charcot-Marie-Tooth type 4C (CMT4C) demyelinating peripheral neuropathy.In this nationwide observational retrospective study involving 27 French University Hospitals, we analyzed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with homozygous and compound heterozygous SH3TC2 gene mutations identified between 2003 and 2023.METHODSIn this nationwide observational retrospective study involving 27 French University Hospitals, we analyzed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with homozygous and compound heterozygous SH3TC2 gene mutations identified between 2003 and 2023.Mean age was 42 years (2-80), and 49% of patients were female. Mean age at disease onset was 14 years (0-52), 60% of patients started the disease before age 10 years, and 24% after age 20 years. Patients presented with distal motor weakness (93% of cases), sensory loss (86%), foot deformities (83%), scoliosis (73%), proximal limb weakness (40%), cranial nerve involvement (48%), hearing loss (37%), scoliosis-related respiratory insufficiency (14%), and genitourinary disorders (6%). Half the patients (48%) walked independently before age 50 years, in contrast with only 13% after age 50 years. After age 50 years, 23% of patients were wheelchair-bound. Nerve conduction studies showed sensorimotor abnormalities within the demyelinating range in all cases. We identified 56 different pathogenic variants in the SH3TC2 gene, including 22 previously undescribed. Patients with two SH3TC2 gene truncating variants had more severe symptoms than patients with one or zero truncating variants.RESULTSMean age was 42 years (2-80), and 49% of patients were female. Mean age at disease onset was 14 years (0-52), 60% of patients started the disease before age 10 years, and 24% after age 20 years. Patients presented with distal motor weakness (93% of cases), sensory loss (86%), foot deformities (83%), scoliosis (73%), proximal limb weakness (40%), cranial nerve involvement (48%), hearing loss (37%), scoliosis-related respiratory insufficiency (14%), and genitourinary disorders (6%). Half the patients (48%) walked independently before age 50 years, in contrast with only 13% after age 50 years. After age 50 years, 23% of patients were wheelchair-bound. Nerve conduction studies showed sensorimotor abnormalities within the demyelinating range in all cases. We identified 56 different pathogenic variants in the SH3TC2 gene, including 22 previously undescribed. Patients with two SH3TC2 gene truncating variants had more severe symptoms than patients with one or zero truncating variants.This study shows CMT4C is a severe childhood- and adult-onset demyelinating peripheral neuropathy often associated with scoliosis, hearing loss, and ambulation loss in a significant proportion of patients after age 50 years. Genotype-phenotype correlations suggest two truncating SH3TC2 gene variants cause a more severe phenotype.INTERPRETATIONThis study shows CMT4C is a severe childhood- and adult-onset demyelinating peripheral neuropathy often associated with scoliosis, hearing loss, and ambulation loss in a significant proportion of patients after age 50 years. Genotype-phenotype correlations suggest two truncating SH3TC2 gene variants cause a more severe phenotype. Background Autosomal recessive mutations in the SH3TC2 gene cause Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy. Methods In this nationwide observational retrospective study involving 27 French University Hospitals, we analyzed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with homozygous and compound heterozygous SH3TC2 gene mutations identified between 2003 and 2023. Results Mean age was 42 years (2–80), and 49% of patients were female. Mean age at disease onset was 14 years (0–52), 60% of patients started the disease before age 10 years, and 24% after age 20 years. Patients presented with distal motor weakness (93% of cases), sensory loss (86%), foot deformities (83%), scoliosis (73%), proximal limb weakness (40%), cranial nerve involvement (48%), hearing loss (37%), scoliosis‐related respiratory insufficiency (14%), and genitourinary disorders (6%). Half the patients (48%) walked independently before age 50 years, in contrast with only 13% after age 50 years. After age 50 years, 23% of patients were wheelchair‐bound. Nerve conduction studies showed sensorimotor abnormalities within the demyelinating range in all cases. We identified 56 different pathogenic variants in the SH3TC2 gene, including 22 previously undescribed. Patients with two SH3TC2 gene truncating variants had more severe symptoms than patients with one or zero truncating variants. Interpretation This study shows CMT4C is a severe childhood‐ and adult‐onset demyelinating peripheral neuropathy often associated with scoliosis, hearing loss, and ambulation loss in a significant proportion of patients after age 50 years. Genotype–phenotype correlations suggest two truncating SH3TC2 gene variants cause a more severe phenotype. BackgroundAutosomal recessive mutations in the SH3TC2 gene cause Charcot–Marie-Tooth type 4C (CMT4C) demyelinating peripheral neuropathy.MethodsIn this nationwide observational retrospective study involving 27 French University Hospitals, we analyzed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with homozygous and compound heterozygous SH3TC2 gene mutations identified between 2003 and 2023.ResultsMean age was 42 years (2–80), and 49% of patients were female. Mean age at disease onset was 14 years (0–52), 60% of patients started the disease before age 10 years, and 24% after age 20 years. Patients presented with distal motor weakness (93% of cases), sensory loss (86%), foot deformities (83%), scoliosis (73%), proximal limb weakness (40%), cranial nerve involvement (48%), hearing loss (37%), scoliosis-related respiratory insufficiency (14%), and genitourinary disorders (6%). Half the patients (48%) walked independently before age 50 years, in contrast with only 13% after age 50 years. After age 50 years, 23% of patients were wheelchair-bound. Nerve conduction studies showed sensorimotor abnormalities within the demyelinating range in all cases. We identified 56 different pathogenic variants in the SH3TC2 gene, including 22 previously undescribed. Patients with two SH3TC2 gene truncating variants had more severe symptoms than patients with one or zero truncating variants.InterpretationThis study shows CMT4C is a severe childhood- and adult-onset demyelinating peripheral neuropathy often associated with scoliosis, hearing loss, and ambulation loss in a significant proportion of patients after age 50 years. Genotype–phenotype correlations suggest two truncating SH3TC2 gene variants cause a more severe phenotype. ABSTRACT Background Autosomal recessive mutations in the SH3TC2 gene cause Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy. Methods In this nationwide observational retrospective study involving 27 French University Hospitals, we analyzed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with homozygous and compound heterozygous SH3TC2 gene mutations identified between 2003 and 2023. Results Mean age was 42 years (2–80), and 49% of patients were female. Mean age at disease onset was 14 years (0–52), 60% of patients started the disease before age 10 years, and 24% after age 20 years. Patients presented with distal motor weakness (93% of cases), sensory loss (86%), foot deformities (83%), scoliosis (73%), proximal limb weakness (40%), cranial nerve involvement (48%), hearing loss (37%), scoliosis‐related respiratory insufficiency (14%), and genitourinary disorders (6%). Half the patients (48%) walked independently before age 50 years, in contrast with only 13% after age 50 years. After age 50 years, 23% of patients were wheelchair‐bound. Nerve conduction studies showed sensorimotor abnormalities within the demyelinating range in all cases. We identified 56 different pathogenic variants in the SH3TC2 gene, including 22 previously undescribed. Patients with two SH3TC2 gene truncating variants had more severe symptoms than patients with one or zero truncating variants. Interpretation This study shows CMT4C is a severe childhood‐ and adult‐onset demyelinating peripheral neuropathy often associated with scoliosis, hearing loss, and ambulation loss in a significant proportion of patients after age 50 years. Genotype–phenotype correlations suggest two truncating SH3TC2 gene variants cause a more severe phenotype. We analysed the clinical, electrophysiological, and genetic features of 103 patients from 89 families with SH3TC2 gene mutations identified in 27 French University Hospitals causing Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy. This study shows CMT4C is a severe childhood‐ and adult‐onset demyelinating peripheral neuropathy often associated with scoliosis, hearing loss, and ambulation loss in a significant proportion of patients after age 50 years. Genotype–phenotype correlations suggest two truncating SH3TC2 gene variants cause a more severe phenotype. |
| Author | Cassereau, Julien Creange, Alain Stojkovic, Tanya Attarian, Shahram Pereon, Yann Roy, Susana Quijano Laugel, Vincent Giordano, Sophie Leonard‐Louis, Sarah Poinsignon, Vianney Lozeron, Pierre Genestet, Steeve Bouhour, Françoise Merle, Philippe Camdessanche, Jean‐Philippe Tard, Céline Kumaran, Deiva Loret, Camille Cintas, Pascal Vidoni, Léo Isapof, Arnaud Mercier, Sandra Lia, Anne‐Sophie Puma, Angela Jaubert, Pauline Guillaud‐Bataille, Marine Sole, Guilhem Esselin, Florence Bonello‐Palot, Nathalie Gitiaux, Cyril Nicolas, Guillaume Labeyrie, Céline Michaud, Maud Chanson, Jean‐Baptiste Magy, Laurent Ollagnon, Elisabeth Echaniz‐Laguna, Andoni |
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| Keywords | Charcot–Marie–Tooth disease myelin Schwann cell SH3TC2 gene SH3TC2 protein demyelinating polyneuropathy CMT4C |
| Language | English |
| License | Attribution-NonCommercial-NoDerivs 2025 The Author(s). European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology. Attribution - NonCommercial - NoDerivatives: http://creativecommons.org/licenses/by-nc-nd |
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| Snippet | ABSTRACT
Background
Autosomal recessive mutations in the SH3TC2 gene cause Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy.
Methods
In... Autosomal recessive mutations in the SH3TC2 gene cause Charcot-Marie-Tooth type 4C (CMT4C) demyelinating peripheral neuropathy. In this nationwide... Background Autosomal recessive mutations in the SH3TC2 gene cause Charcot–Marie‐Tooth type 4C (CMT4C) demyelinating peripheral neuropathy. Methods In this... Autosomal recessive mutations in the SH3TC2 gene cause Charcot-Marie-Tooth type 4C (CMT4C) demyelinating peripheral neuropathy.BACKGROUNDAutosomal recessive... BackgroundAutosomal recessive mutations in the SH3TC2 gene cause Charcot–Marie-Tooth type 4C (CMT4C) demyelinating peripheral neuropathy.MethodsIn this... |
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| SubjectTerms | Abnormalities Adolescent Adult Age Age of Onset Aged Aged, 80 and over Charcot-Marie-Tooth Disease - epidemiology Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - physiopathology Charcot–Marie–Tooth disease Child Child, Preschool Children CMT4C Cranial nerves demyelinating polyneuropathy Demyelination Female France - epidemiology Genotype Genotypes Hearing Hearing loss Humans Intracellular Signaling Peptides and Proteins Life Sciences Male Middle Aged Mutation myelin Nerve conduction Nerves Patients Peripheral neuropathy Phenotype Phenotypes Point mutation Proteins - genetics Retrospective Studies Schwann cell Scoliosis Sensorimotor system SH3TC2 gene SH3TC2 protein Wheelchairs Young Adult |
| Title | Nationwide Phenotypic and Genotypic Characterisation of 103 Patients With SH3TC2 Gene‐Related Demyelinating Peripheral Neuropathy |
| URI | https://onlinelibrary.wiley.com/doi/abs/10.1111%2Fene.70313 https://www.ncbi.nlm.nih.gov/pubmed/40745932 https://www.proquest.com/docview/3244167866 https://www.proquest.com/docview/3235388227 https://hal.univ-lille.fr/hal-05237279 |
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