A novel ETFB mutation in a patient with glutaric aciduria type II

Glutaric aciduria type II (GAII) is a rare inborn error of metabolism clinically classified into a neonatal-onset form with congenital anomalies, a neonatal-onset form without congenital anomalies and a mild and/or late-onset form (MIM #231680). Here, we report on a GAII patient carrying a homozygou...

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Autores principales: Sudo, Yosuke, Sasaki, Ayako, Wakabayashi, Takashi, Numakura, Chikahiko, Hayasaka, Kiyoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785565/
https://www.ncbi.nlm.nih.gov/pubmed/27081516
http://dx.doi.org/10.1038/hgv.2015.16
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author Sudo, Yosuke
Sasaki, Ayako
Wakabayashi, Takashi
Numakura, Chikahiko
Hayasaka, Kiyoshi
author_facet Sudo, Yosuke
Sasaki, Ayako
Wakabayashi, Takashi
Numakura, Chikahiko
Hayasaka, Kiyoshi
author_sort Sudo, Yosuke
collection PubMed
description Glutaric aciduria type II (GAII) is a rare inborn error of metabolism clinically classified into a neonatal-onset form with congenital anomalies, a neonatal-onset form without congenital anomalies and a mild and/or late-onset form (MIM #231680). Here, we report on a GAII patient carrying a homozygous novel c.143_145delAGG (p.Glu48del) mutation in the ETFB gene, who presented with a neonatal-onset form with congenital anomalies and rapidly developed cardiomegaly after birth.
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spelling pubmed-47855652016-04-14 A novel ETFB mutation in a patient with glutaric aciduria type II Sudo, Yosuke Sasaki, Ayako Wakabayashi, Takashi Numakura, Chikahiko Hayasaka, Kiyoshi Hum Genome Var Data Report Glutaric aciduria type II (GAII) is a rare inborn error of metabolism clinically classified into a neonatal-onset form with congenital anomalies, a neonatal-onset form without congenital anomalies and a mild and/or late-onset form (MIM #231680). Here, we report on a GAII patient carrying a homozygous novel c.143_145delAGG (p.Glu48del) mutation in the ETFB gene, who presented with a neonatal-onset form with congenital anomalies and rapidly developed cardiomegaly after birth. Nature Publishing Group 2015-06-18 /pmc/articles/PMC4785565/ /pubmed/27081516 http://dx.doi.org/10.1038/hgv.2015.16 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 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/4.0/
spellingShingle Data Report
Sudo, Yosuke
Sasaki, Ayako
Wakabayashi, Takashi
Numakura, Chikahiko
Hayasaka, Kiyoshi
A novel ETFB mutation in a patient with glutaric aciduria type II
title A novel ETFB mutation in a patient with glutaric aciduria type II
title_full A novel ETFB mutation in a patient with glutaric aciduria type II
title_fullStr A novel ETFB mutation in a patient with glutaric aciduria type II
title_full_unstemmed A novel ETFB mutation in a patient with glutaric aciduria type II
title_short A novel ETFB mutation in a patient with glutaric aciduria type II
title_sort novel etfb mutation in a patient with glutaric aciduria type ii
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785565/
https://www.ncbi.nlm.nih.gov/pubmed/27081516
http://dx.doi.org/10.1038/hgv.2015.16
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