A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing

Propionic acidemia (PA) is an inborn error of metabolism, caused by mutations in either the PCCA or PCCB gene, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here we report a 6-year-old Thai boy with PA who was born to consanguineous parents. Exome sequencing identified...

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Autores principales: Porntaveetus, Thantrira, Srichomthong, Chalurmpon, Suphapeetiporn, Kanya, Shotelersuk, Vorasuk
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/PMC4785532/
https://www.ncbi.nlm.nih.gov/pubmed/27081542
http://dx.doi.org/10.1038/hgv.2015.33
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author Porntaveetus, Thantrira
Srichomthong, Chalurmpon
Suphapeetiporn, Kanya
Shotelersuk, Vorasuk
author_facet Porntaveetus, Thantrira
Srichomthong, Chalurmpon
Suphapeetiporn, Kanya
Shotelersuk, Vorasuk
author_sort Porntaveetus, Thantrira
collection PubMed
description Propionic acidemia (PA) is an inborn error of metabolism, caused by mutations in either the PCCA or PCCB gene, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here we report a 6-year-old Thai boy with PA who was born to consanguineous parents. Exome sequencing identified a novel homozygous frameshift insertion (c.379_380insA; p.T127NfsX160) in the PCCB gene, expanding its mutational spectrum.
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spelling pubmed-47855322016-04-14 A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing Porntaveetus, Thantrira Srichomthong, Chalurmpon Suphapeetiporn, Kanya Shotelersuk, Vorasuk Hum Genome Var Data Report Propionic acidemia (PA) is an inborn error of metabolism, caused by mutations in either the PCCA or PCCB gene, leading to mitochondrial accumulation of propionyl-CoA and its by-products. Here we report a 6-year-old Thai boy with PA who was born to consanguineous parents. Exome sequencing identified a novel homozygous frameshift insertion (c.379_380insA; p.T127NfsX160) in the PCCB gene, expanding its mutational spectrum. Nature Publishing Group 2015-09-17 /pmc/articles/PMC4785532/ /pubmed/27081542 http://dx.doi.org/10.1038/hgv.2015.33 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 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-nd/4.0/
spellingShingle Data Report
Porntaveetus, Thantrira
Srichomthong, Chalurmpon
Suphapeetiporn, Kanya
Shotelersuk, Vorasuk
A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
title A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
title_full A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
title_fullStr A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
title_full_unstemmed A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
title_short A novel PCCB mutation in a Thai patient with propionic acidemia identified by exome sequencing
title_sort novel pccb mutation in a thai patient with propionic acidemia identified by exome sequencing
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785532/
https://www.ncbi.nlm.nih.gov/pubmed/27081542
http://dx.doi.org/10.1038/hgv.2015.33
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