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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Autores principales: Kobayashi, Masahisa, Ohashi, Toya, Iizuka, Sayoko, Kaneshiro, Eiko, Higuchi, Takashi, Eto, Yoshikatsu, Ida, Hiroyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121308/
https://www.ncbi.nlm.nih.gov/pubmed/27896102
http://dx.doi.org/10.1016/j.ymgmr.2014.07.001
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author Kobayashi, Masahisa
Ohashi, Toya
Iizuka, Sayoko
Kaneshiro, Eiko
Higuchi, Takashi
Eto, Yoshikatsu
Ida, Hiroyuki
author_facet Kobayashi, Masahisa
Ohashi, Toya
Iizuka, Sayoko
Kaneshiro, Eiko
Higuchi, Takashi
Eto, Yoshikatsu
Ida, Hiroyuki
author_sort Kobayashi, Masahisa
collection PubMed
description 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.
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spelling pubmed-51213082016-11-28 Frequency of de novo mutations in Japanese patients with Fabry disease Kobayashi, Masahisa Ohashi, Toya Iizuka, Sayoko Kaneshiro, Eiko Higuchi, Takashi Eto, Yoshikatsu Ida, Hiroyuki Mol Genet Metab Rep Short Communication 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. Elsevier 2014-08-02 /pmc/articles/PMC5121308/ /pubmed/27896102 http://dx.doi.org/10.1016/j.ymgmr.2014.07.001 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Short Communication
Kobayashi, Masahisa
Ohashi, Toya
Iizuka, Sayoko
Kaneshiro, Eiko
Higuchi, Takashi
Eto, Yoshikatsu
Ida, Hiroyuki
Frequency of de novo mutations in Japanese patients with Fabry disease
title Frequency of de novo mutations in Japanese patients with Fabry disease
title_full Frequency of de novo mutations in Japanese patients with Fabry disease
title_fullStr Frequency of de novo mutations in Japanese patients with Fabry disease
title_full_unstemmed Frequency of de novo mutations in Japanese patients with Fabry disease
title_short Frequency of de novo mutations in Japanese patients with Fabry disease
title_sort frequency of de novo mutations in japanese patients with fabry disease
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121308/
https://www.ncbi.nlm.nih.gov/pubmed/27896102
http://dx.doi.org/10.1016/j.ymgmr.2014.07.001
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