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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Detalles Bibliográficos
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
Descripción
Sumario: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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