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Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
Arch Neurol. 2005 Aug; 62(8):1201-7.AN

Abstract

BACKGROUND

Charcot-Marie-Tooth (CMT) disease, the most common hereditary peripheral neuropathy, is highly clinically and genetically heterogeneous, and mutations in at least 18 genes have been identified. Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary motor neuropathy.

OBJECTIVE

To investigate the frequency and phenotypic features of an Hsp27 mutation in Chinese patients with CMT disease.

DESIGN

DNA samples from 114 unrelated patients with CMT disease were screened for mutations in Hsp27 by polymerase chain reaction and direct sequencing. A cosegregated study was performed using the MbiI restriction endonuclease, and 50 healthy control subjects were analyzed. Haplotype analysis was performed using 5 short tandem repeat markers to analyze whether the families with the same mutation probably had a common ancestor.

RESULTS

One missense mutation, C379T, was detected in 4 autosomal dominant families with CMT disease type 2, and haplotype analysis indicated that the 4 families probably had a common founder. The frequency of the Hsp27 mutation is 0.9% (1/111) in Chinese patients with CMT disease in our study, and the phenotypes were characterized by later onset (age, 35-60 years) and mild sensory impairments. Electrophysiological findings showed moderately to severely slowed nerve conduction velocities in lower limb nerves but normal or mildly reduced velocities in upper limb nerves.

CONCLUSIONS

To our knowledge, this is the first report of an Hsp27 mutation in the People's Republic of China. The C379T mutation in Hsp27 also causes CMT disease type 2, except for distal hereditary motor neuropathy, and the phenotypes are distinct from the family with CMT disease type 2F described previously. A mutation of Hsp27 may be uncommon in Chinese patients with CMT disease.

Authors+Show Affiliations

Department of Neurology, Xiangya Hospital, Central South University, Changsha, People's Republic of China. bstang7398@yahoo.com.cnNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16087758

Citation

Tang, Beisha, et al. "Mutation Analysis of the Small Heat Shock Protein 27 Gene in Chinese Patients With Charcot-Marie-Tooth Disease." Archives of Neurology, vol. 62, no. 8, 2005, pp. 1201-7.
Tang B, Liu X, Zhao G, et al. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. Arch Neurol. 2005;62(8):1201-7.
Tang, B., Liu, X., Zhao, G., Luo, W., Xia, K., Pan, Q., Cai, F., Hu, Z., Zhang, C., Chen, B., Zhang, F., Shen, L., Zhang, R., & Jiang, H. (2005). Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. Archives of Neurology, 62(8), 1201-7.
Tang B, et al. Mutation Analysis of the Small Heat Shock Protein 27 Gene in Chinese Patients With Charcot-Marie-Tooth Disease. Arch Neurol. 2005;62(8):1201-7. PubMed PMID: 16087758.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease. AU - Tang,Beisha, AU - Liu,Xiaomin, AU - Zhao,Guohua, AU - Luo,Wei, AU - Xia,Kun, AU - Pan,Qian, AU - Cai,Fang, AU - Hu,Zhengmao, AU - Zhang,Cheng, AU - Chen,Biao, AU - Zhang,Fufeng, AU - Shen,Lu, AU - Zhang,Ruxu, AU - Jiang,Hong, PY - 2005/8/10/pubmed PY - 2005/9/9/medline PY - 2005/8/10/entrez SP - 1201 EP - 7 JF - Archives of neurology JO - Arch. Neurol. VL - 62 IS - 8 N2 - BACKGROUND: Charcot-Marie-Tooth (CMT) disease, the most common hereditary peripheral neuropathy, is highly clinically and genetically heterogeneous, and mutations in at least 18 genes have been identified. Recently, mutations in small heat shock protein 27 (Hsp27) were reported to cause CMT disease type 2F and distal hereditary motor neuropathy. OBJECTIVE: To investigate the frequency and phenotypic features of an Hsp27 mutation in Chinese patients with CMT disease. DESIGN: DNA samples from 114 unrelated patients with CMT disease were screened for mutations in Hsp27 by polymerase chain reaction and direct sequencing. A cosegregated study was performed using the MbiI restriction endonuclease, and 50 healthy control subjects were analyzed. Haplotype analysis was performed using 5 short tandem repeat markers to analyze whether the families with the same mutation probably had a common ancestor. RESULTS: One missense mutation, C379T, was detected in 4 autosomal dominant families with CMT disease type 2, and haplotype analysis indicated that the 4 families probably had a common founder. The frequency of the Hsp27 mutation is 0.9% (1/111) in Chinese patients with CMT disease in our study, and the phenotypes were characterized by later onset (age, 35-60 years) and mild sensory impairments. Electrophysiological findings showed moderately to severely slowed nerve conduction velocities in lower limb nerves but normal or mildly reduced velocities in upper limb nerves. CONCLUSIONS: To our knowledge, this is the first report of an Hsp27 mutation in the People's Republic of China. The C379T mutation in Hsp27 also causes CMT disease type 2, except for distal hereditary motor neuropathy, and the phenotypes are distinct from the family with CMT disease type 2F described previously. A mutation of Hsp27 may be uncommon in Chinese patients with CMT disease. SN - 0003-9942 UR - https://www.unboundmedicine.com/medline/citation/16087758/Mutation_analysis_of_the_small_heat_shock_protein_27_gene_in_chinese_patients_with_Charcot_Marie_Tooth_disease_ L2 - https://jamanetwork.com/journals/jamaneurology/fullarticle/10.1001/archneur.62.8.1201 DB - PRIME DP - Unbound Medicine ER -