1型遗传性运动感觉神经病和易患压迫性麻痹的遗传性神经病的突变频率估计：一项欧洲合作研究。

Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study.

作者信息

Nelis E, Van Broeckhoven C, De Jonghe P, Löfgren A, Vandenberghe A, Latour P, Le Guern E, Brice A, Mostacciuolo M L, Schiavon F, Palau F, Bort S, Upadhyaya M, Rocchi M, Archidiacono N, Mandich P, Bellone E, Silander K, Savontaus M L, Navon R, Goldberg-Stern H, Estivill X, Volpini V, Friedl W, Gal A

机构信息

Born-Bunge Foundation, University of Antwerp, Department of Biochemistry, Belgium.

出版信息

Eur J Hum Genet. 1996;4(1):25-33. doi: 10.1159/000472166.

DOI:10.1159/000472166

PMID:8800924

Abstract

A European collaboration on Charcot-Marie-Tooth type 1 (CMT1) disease and hereditary neuropathy with liability to pressure palsies (HNPP) was established to estimate the duplication and deletion frequency, respectively, on chromosome 17p11.2 and to make an inventory of mutations in the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) and connexin 32 (Cx32) located on chromosomes 17p11.2, 1q21-q23 and Xq13.1, respectively. In 70.7% of 819 unrelated CMT1 patients, the 17p11.2 duplication was present. In 84.0% of 156 unrelated HNPP patients, the 17p11.2 deletion was present. In the nonduplicated CMT1 patients, several different mutations were identified in the myelin genes PMP22, MPZ and Cx32.

摘要

欧洲发起了一项针对1型遗传性运动感觉神经病（CMT1）和遗传性压力易感性周围神经病（HNPP）的合作研究，旨在分别评估17p11.2染色体上的重复和缺失频率，并梳理位于17p11.2、1q21 - q23和Xq13.1染色体上的髓磷脂基因，即外周髓磷脂蛋白22（PMP22）、髓磷脂蛋白零（MPZ）和连接蛋白32（Cx32）的突变情况。在819例无亲缘关系的CMT1患者中，70.7%存在17p11.2重复。在156例无亲缘关系的HNPP患者中，84.0%存在17p11.2缺失。在未发生重复的CMT1患者中，在髓磷脂基因PMP22、MPZ和Cx32中鉴定出了几种不同的突变。