Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan

Yen Hui Chiu, Yu Ning Liu, Wei Ling Liao, Ying Chen Chang, Shuan Pei Lin, Chia Chi Hsu, Pao Chin Chiu, Dau Ming Niu, Chung Hsing Wang, Yu Yuan Ke, Yin Hsiu Chien, Kwang Jen Hsiao, Tze Tze Liu*

*此作品的通信作者

研究成果: Article同行評審

15 引文 斯高帕斯(Scopus)

摘要

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.

原文English
頁(從 - 到)415-429
頁數15
期刊Biochemical Genetics
52
發行號9-10
DOIs
出版狀態Published - 23 9月 2014

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