文章基本信息

标题：Frequency of de novo mutations in Japanese patients with Fabry disease
作者：Masahisa Kobayashi ; Toya Ohashi ; Sayoko Iizuka 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2014
卷号：1
页码：283-287
DOI：10.1016/j.ymgmr.2014.07.001
出版社：Elsevier B.V.
摘要：Abstract We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency of de novo mutations. In 5 of 74 families (6.8%), the probands had no positive family histories and were diagnosed as de novo because their parents had no mutations in {GLA} gene. The parents of Fabry patients do not necessarily have mutations in {GLA} gene which is an important consideration in genetic counseling for FD.
关键词：Fabry disease; Alpha-galactosidase A; De novo mutation; Novel mutation; W340S; Genetic counseling