Frequency of de novo mutations in Japanese patients with Fabry disease

Frequency of de novo mutations in Japanese patients with Fabry disease

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 GL...

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Bibliographic Details
Main Authors: Masahisa Kobayashi, Toya Ohashi, Sayoko Iizuka, Eiko Kaneshiro, Takashi Higuchi, Yoshikatsu Eto, Hiroyuki Ida
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fabry disease
Alpha-galactosidase A
De novo mutation
Novel mutation
W340S
Genetic counseling
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000421
Description
Summary: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.
ISSN:2214-4269

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