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- Title
Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan.
- Authors
Chiu, Yen-Hui; Liu, Yu-Ning; Liao, Wei-Ling; Chang, Ying-Chen; Lin, Shuan-Pei; Hsu, Chia-Chi; Chiu, Pao-Chin; Niu, Dau-Ming; Wang, Chung-Hsing; Ke, Yu-Yuan; Chien, Yin-Hsiu; Hsiao, Kwang-Jen; Liu, Tze-Tze
- 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 β, 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.229C→T (p.R77W) and c.1262A→C (p.Q421P), were identified in a PCCA-deficient patient. Six mutations in the PCCB gene, including c.-4156_183+3713del, c.580T→C (p.S194P), c.838dup (p.L280Pfs*11), c.1301C→T (p.A434V), c.1316A→G (P.Y439C), and c.1534C→T (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.1301C→T 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.
- Subjects
TAIWAN; GENETIC mutation; ACIDOSIS; PROPIONYL-CoA carboxylase; BRANCHED chain amino acids; CHOLESTEROL metabolism; PHENOTYPES
- Publication
Biochemical Genetics, 2014, Vol 52, Issue 9/10, p415
- ISSN
0006-2928
- Publication type
Article
- DOI
10.1007/s10528-014-9657-6