Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L (original) (raw)

Abstract

Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. We have previously described a large Chinese CMT family and assigned the locus underlying the disease (CMT2L; OMIM 608673) to chromosome 12q24. Here, we report a novel c.423G→T (Lys141Asn) missense mutation of small heat-shock protein 22-kDa protein 8 (encoded by HSPB8), which is also responsible for distal hereditary motor neuropathy type (dHMN) II. No disease-causing mutations have been identified in another 114 CMT families.

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References

• Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED (2003) Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 72:1293–1299
  Article CAS PubMed Google Scholar
• De Jonghe P, Timmerman V, Nelis E, Martin JJ, Van Broeckhoven C (1997) Charcot-Marie-Tooth disease and related peripheral neuropathies. J Peripher Nerv Syst 2:370–387
  PubMed Google Scholar
• De Jonghe P, Timmerman V, Van Broeckhoven C (1998) Second workshop of the European CMT consortium: 53rd ENMC international workshop on classification and diagnostic guidelines for Charcot-Marie-Tooth type 2 (CMT2-HMSN II) and distal hereditary motor neuropathy (Distal HMN-Spinal CMT): Naarden, The Netherlands, 26–28 September 1997. Neuromuscul Disord 8:426–431
  Article PubMed Google Scholar
• Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V (2004) Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet 36:602–606
  Article CAS PubMed Google Scholar
• Irobi J, Impe KV, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, Vriendt ED, Jacobs A, Gerwen VV, Vennekens K, Mazanec R, Tournev I, Hilton-Jones D, Talbot K, Kremensky I, Bosch LV, Robberecht W, Vandekerckhove J, Broeckhoven CV, Gettemans J, Jonghe PD, Timmerman V (2004) Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy. Nat Genet 36:597–601
  Article CAS PubMed Google Scholar
• Tang B, Luo W, Xia K, Xiao J, Jiang H, Shen L, Tang J, Zhao G, Cai F, Pan Q, Dai H, Yang Q, Xia J, Evgrafov OV (2004) A new locus for autosomal dominant Charcot-Marie-Tooth Disease type 2 (CMT2L) maps to chromosome 12q24. Hum Genet 114:527–533
  Article CAS PubMed Google Scholar
• Timmerman V, Raeymaekers P, Nelis E, De Jonghe P, Muylle L, Ceuterick C, Martin JJ, Van Broeckhoven C (1992) Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. J Neurol Sci 109:41–48
  Article CAS PubMed Google Scholar

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Acknowledgements

We thank the participating families for their cooperation throughout the investigation. This study was supported by grants from the National 863 High-tech Project (2001AA227011 and 2004AA227040) and National Natural Science Foundation of China (30300199, 30300200 and 30370515). We also thank Dr. Zheng-mao Hu for skillful technical assistance and critical reading of this manuscript.

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Authors and Affiliations

1. National Laboratory of Medical Genetics of China, Central South University, 410078, Changsha, Hunan, People’s Republic of China
   Bei-sha Tang, Kun Xia, Fang Cai, Qian Pan, Zhi-gao Long & He-ping Dai
2. Department of Neurology, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, People’s Republic of China
   Bei-sha Tang, Guo-hua Zhao, Ru-xu Zhang, Fu-feng Zhang, Xiao-min Liu, Lu Shen & Hong Jiang
3. Department of Neurology, First Affiliated Hospital, Medical College of Zhejiang University, 310003, Hangzhou, Zhejiang, People’s Republic of China
   Wei Luo
4. Department of Neurology, Xuanwu Hospital, Capital University of Medical Science, 100053, Beijing, People’s Republic of China
   Biao Chen
5. Department of Neurology, First Affiliated Hospital, Medical College of Sun Yat-sen University, 510800, Guangzhou, Guangdong, People’s Republic of China
   Cheng Zhang

Authors

1. Bei-sha Tang
2. Guo-hua Zhao
3. Wei Luo
4. Kun Xia
5. Fang Cai
6. Qian Pan
7. Ru-xu Zhang
8. Fu-feng Zhang
9. Xiao-min Liu
10. Biao Chen
11. Cheng Zhang
12. Lu Shen
13. Hong Jiang
14. Zhi-gao Long
15. He-ping Dai

Corresponding author

Correspondence toBei-sha Tang.

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Tang, Bs., Zhao, Gh., Luo, W. et al. Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.Hum Genet 116, 222–224 (2005). https://doi.org/10.1007/s00439-004-1218-3

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• Received: 22 September 2004
• Accepted: 20 October 2004
• Published: 23 November 2004
• Issue date: February 2005
• DOI: https://doi.org/10.1007/s00439-004-1218-3

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