Frequency of de novo mutations in Japanese patients with Fabry disease

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.

Keywords

• Fabry disease
• Alpha-galactosidase A
• De novo mutation
• Novel mutation
• W340S
• Genetic counseling