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

Frequency of de novo mutations in Japanese patients with Fabry disease

Masahisa Kobayashi  1 , Toya Ohashi  2 , Sayoko Iizuka  3 , Eiko Kaneshiro  1 , Takashi Higuchi  3 , Yoshikatsu Eto  4 , Hiroyuki Ida  2
Affiliations

Frequency of de novo mutations in Japanese patients with Fabry disease

Masahisa Kobayashi et al. Mol Genet Metab Rep. .

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.

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Figures

Fig. 1
Fig. 1
A. Study patients. B. The family trees of de novo cases. The probands of families 1, 2, 3 and 4 were classically affected male patients and that of family 5 was a female heterozygote patient. The parents of probands in these 5 families had no characteristic symptoms of FD. All of the probands had disease-causing mutations and these mutations were not detected from their parents and siblings.
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