Frequency of de novo mutations in Japanese patients with Fabry disease

Masahisa Kobayashi; Toya Ohashi; Sayoko Iizuka; Eiko Kaneshiro; Takashi Higuchi; Yoshikatsu Eto; Hiroyuki Ida

doi:10.1016/j.ymgmr.2014.07.001

Frequency of de novo mutations in Japanese patients with Fabry disease

Mol Genet Metab Rep. 2014 Aug 2:1:283-287. doi: 10.1016/j.ymgmr.2014.07.001. eCollection 2014.

Authors

Masahisa Kobayashi¹, Toya Ohashi², Sayoko Iizuka³, Eiko Kaneshiro¹, Takashi Higuchi³, Yoshikatsu Eto⁴, Hiroyuki Ida²

Affiliations

¹ Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
² Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan; Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
³ Division of Gene Therapy, Research Center for Medical Sciences, The Jikei University School of Medicine, Tokyo, Japan.
⁴ Advanced Clinical Research Center, Institute of Neurological Disorders, Kanagawa, Japan.

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: Alpha-galactosidase A; De novo mutation; Fabry disease; Genetic counseling; Novel mutation; W340S.