title: 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.
authors.affiliation: Department of Physiology, Faculty of Dentistry, Chulalongkorn University , Bangkok, Thailand.
authors.forename: Thantrira
authors.initials: T
authors.lastname: Porntaveetus
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
authors.forename: Chalurmpon
authors.initials: C
authors.lastname: Srichomthong
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
authors.forename: Kanya
authors.initials: K
authors.lastname: Suphapeetiporn
authors.affiliation: Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk