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

ABSTRACT: 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.

SUBMITTER: Porntaveetus T

PROVIDER: S-EPMC4785532 | biostudies-other | 2015

REPOSITORIES: biostudies-other

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

Porntaveetus Thantrira T Srichomthong Chalurmpon C Suphapeetiporn Kanya K Shotelersuk Vorasuk V

Human genome variation 20150917

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. ...[more]

PMID: 27081542

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