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
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