A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels

A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G...

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Autores principales: Chinen, Yasutsugu, Nakamura, Sadao, Yoshida, Tomohide, Maruyama, Hiroki, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5311055/
https://www.ncbi.nlm.nih.gov/pubmed/28224042
http://dx.doi.org/10.1038/hgv.2017.2
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author Chinen, Yasutsugu
Nakamura, Sadao
Yoshida, Tomohide
Maruyama, Hiroki
Nakamura, Kimitoshi
author_facet Chinen, Yasutsugu
Nakamura, Sadao
Yoshida, Tomohide
Maruyama, Hiroki
Nakamura, Kimitoshi
author_sort Chinen, Yasutsugu
collection PubMed
description A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history.
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spelling pubmed-53110552017-02-21 A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels Chinen, Yasutsugu Nakamura, Sadao Yoshida, Tomohide Maruyama, Hiroki Nakamura, Kimitoshi Hum Genome Var Data Report A pilot study of newborn screening for Fabry disease was performed in Okinawa, Japan. A total of 2,443 neonates were screened using dried blood spot samples over 7 years starting in 2007. Of 13 neonates determined to have low α-galactosidase A (GLA) activity, one boy had a new missense mutation, p.G144D of the GLA gene. This mutation was considered to be a late-onset type, as evaluated based on plasma globotriaosylsphingosine levels and family history. Nature Publishing Group 2017-02-16 /pmc/articles/PMC5311055/ /pubmed/28224042 http://dx.doi.org/10.1038/hgv.2017.2 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
spellingShingle Data Report
Chinen, Yasutsugu
Nakamura, Sadao
Yoshida, Tomohide
Maruyama, Hiroki
Nakamura, Kimitoshi
A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
title A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
title_full A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
title_fullStr A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
title_full_unstemmed A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
title_short A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels
title_sort new mutation found in newborn screening for fabry disease evaluated by plasma globotriaosylsphingosine levels
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5311055/
https://www.ncbi.nlm.nih.gov/pubmed/28224042
http://dx.doi.org/10.1038/hgv.2017.2
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