A monozygotic twin pair with highly discordant Gaucher phenotypes
A monozygotic twin pair with highly discordant Gaucher phenotypes
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DOI：
10.1016/j.bcmd.2010.10.007
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发表时间：
2011-01-15
影响因子：
2.3
通讯作者：
Hollak, C. E. M.
中科院分区：
文献类型：
--
作者：
Biegstraaten, M.;van Schaik, I. N.;Hollak, C. E. M.
我们描述了同卵双胞胎姐妹，她们是摩洛哥近亲父母所生，她们的戈谢病表现高度不一致。两者均携带戈谢基因型 N188S/N188S。一名患者患有严重的内脏受累、癫痫和小脑综合征。她的双胞胎没有表现出戈谢病的任何症状或体征，但患有 1 型糖尿病。讨论了轻度戈谢突变与严重表型的同时发生，以及一对同卵双胞胎中高度不一致的表型的发生。 (C) 2010 Elsevier Inc. 保留所有权利。
We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any symptoms or signs of Gaucher disease but suffers from type 1 diabetes mellitus. The concurrence of a mild Gaucher mutation with a severe phenotype, as well as the occurrence of highly discordant phenotypes in a pair of monozygotic twins, is discussed. (C) 2010 Elsevier Inc. All rights reserved.