Abstract
Charcot-Marie-Tooth disease (CMT) constitutes a genetically heterogeneous group of inherited motor and sensory peripheral neuropathies. The axonal type of CMT is designated CMT type 2 (CMT2). Four loci for autosomal dominant CMT2 have been reported so far. Only in CMT2E, linked to chromosome 8p21, disease-causing mutations in the gene for neurofilament light chain (NEFL) were identified. In this study we report a multigenerational Russian family with autosomal dominant CMT2 and assign the locus to chromosome 7q11-q21. The CMT2 neuropathy in this family represents a novel genetic entity designated CMT2F.
Similar content being viewed by others
Article PDF
References
Dyck PJ, Chance P, Lebo R, Carney JA . Hereditary motor and sensory neuropathies In Dyck PJ, Thomas PK, Griffin JW, Low PA, Poduslo JF (eds). Peripheral Neuropathy. 3 Ed Philadelphia: W.B. Saunders Company 1993 pp 1094–1136
De Jonghe P, Timmerman V, Nelis E . Hereditary Peripheral Neuropathies. In: Deymeer F (ed). Neuromuscular Diseases: From Basic Mechanisms to Clinical Management Basel: Karger 2000 pp 128–146
Mersiyanova IV, Perepelov AV, Polyakov AV et al. A new variant of Charcot-Marie-Tooth disease type 2 (CMT2E) is probably the result of a mutation in the neurofilament light gene Am J Hum Genet 2000 67: 37–46
De Jonghe P, Mersiyanova IV, Nelis E et al. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E Ann Neurol 2001 49: 245–249
Nelis E, Haites N, Van Broeckhoven C . Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies Hum Mutat 1999 13: 11–28
Kalaydjieva L, Gresham D, Gooding R et al. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom Am J Hum Genet 2000 67: 47–58
Bolino A, Muglia M, Conforti FL et al. Charcot-marie-tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2 Nat Genet 2000 25: 17–19
Boerkoel CF, Takashima H, Stankiewicz P et al. Periaxin mutations causes recessive Dejerine-Sottas Neuropathy Am J Hum Genet 2001 68: 325–333
Guilbot A, Williams A, Ravisé N et al. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease Am J Hum Genet 2001 10: 415–421
Bomont P, Cavalier L, Blondeau F et al. The gene mutated in giant axonal neuropathy encodes for gigaxonin, a novel member of the cytoskeletal BTB/Kelch repeat family NatGenet 2000 26: 370–374
Acknowledgements
The authors wish to thank the patients and their family members for their kind cooperation in this study, and are grateful to Mrs Ann Löfgren, Els De Vriendt and Veerle Van Gerwen for their excellent technical assistance. This research was funded and supported by the Russian Human Genome Organisation (grant No 85), the Fund for Scientific Research (FWO-Flanders, Belgium), the Geneeskundige Stichting Koningin Elisabeth (GSKE, Belgium), the Association Belge contres les Maladies Neuro-musculaires (ABMM, Belgium), the Association Française contre les Myopathies (AFM, France) and the EU-BIOMED2 concerted action of the European CMT consortium (grants CT960055 and CT961614). OV Evgrafov is holder of a research fellowship of the Belgian Office for Scientific, Technical and Cultural Affairs (DWTC, Belgium). V Timmerman is a postdoctoral fellow of the FWO, Belgium.
Author information
Authors and Affiliations
Corresponding authors
Rights and permissions
About this article
Cite this article
Ismailov, S., Fedotov, V., Dadali, E. et al. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur J Hum Genet 9, 646–650 (2001). https://doi.org/10.1038/sj.ejhg.5200686
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1038/sj.ejhg.5200686
Keywords
This article is cited by
-
Heat-shock chaperone HSPB1 regulates cytoplasmic TDP-43 phase separation and liquid-to-gel transition
Nature Cell Biology (2022)
-
The chaperone HSPB1 prepares protein aggregates for resolubilization by HSP70
Scientific Reports (2021)
-
Functional results and quality of life after joint preserving or sacrificing surgery in Charcot-Marie-Tooth foot deformities
International Orthopaedics (2021)
-
MRI findings, patterns of disease distribution, and muscle fat fraction calculation in five patients with Charcot-Marie-Tooth type 2Â F disease
Skeletal Radiology (2012)
-
Recent Advances in the Genetics of Hereditary Axonal Sensory-Motor Neuropathies Type 2
Current Neurology and Neuroscience Reports (2011)