Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.
Biochem Genet
; 52(9-10): 415-29, 2014 Oct.
Article
em En
| MEDLINE
| ID: mdl-24863100
ABSTRACT
Propionyl-CoA carboxylase (PCC) is involved in the catabolism of branched chain amino acids, odd-numbered fatty acids, cholesterol, and other metabolites. PCC consists of two subunits, α and ß, encoded by the PCCA and PCCB genes, respectively. Mutations in the PCCA or PCCB subunit gene may lead to propionic acidemia. In this study, we performed mutation analysis on ten propionic acidemia patients from eight unrelated and nonconsanguineous families in Taiwan. Two PCCA mutations, c.229CâT (p.R77W) and c.1262AâC (p.Q421P), were identified in a PCCA-deficient patient. Six mutations in the PCCB gene, including c.-4156_183+3713del, c.580TâC (p.S194P), c.838dup (p.L280Pfs 11), c.1301CâT (p.A434V), c.1316AâG (P.Y439C), and c.1534CâT (p.R512C), were identified in seven PCCB-deficient families. The c.-4156_183+3713del mutation is the first known large deletion that affects the PCCB gene functions. Furthermore, the c.1301CâT and c.-4156_183+3713del mutations in the PCCB gene have not been reported previously. Clinical features demonstrated that these two frequent mutations are associated with low enzyme activity and a classic propionic acidemia phenotype.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Metilmalonil-CoA Descarboxilase
/
Acidemia Propiônica
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
/
Infant
/
Male
/
Newborn
País/Região como assunto:
Asia
Idioma:
En
Revista:
Biochem Genet
Ano de publicação:
2014
Tipo de documento:
Article
País de afiliação:
Taiwan