Frequency of de novo mutations in Japanese patients with Fabry disease.
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ABSTRACT:
SUBMITTER: Kobayashi M
PROVIDER: S-EPMC5121308 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Publications
Frequency of <i>de novo</i> mutations in Japanese patients with Fabry disease.
Kobayashi Masahisa M Ohashi Toya T Iizuka Sayoko S Kaneshiro Eiko E Higuchi Takashi T Eto Yoshikatsu Y Ida Hiroyuki H
Molecular genetics and metabolism reports 20140802
We examined alpha-galactosidase A (GLA) gene mutations in 74 Japanese families with Fabry disease (FD) to determine the frequency of <i>de novo</i> mutations. In 5 of 74 families (6.8%), the probands had no positive family histories and were diagnosed as <i>de novo</i> 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. ...[more]
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