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.
journal_name
Biochem Genetjournal_title
Biochemical geneticsauthors
Chiu YH,Liu YN,Liao WL,Chang YC,Lin SP,Hsu CC,Chiu PC,Niu DM,Wang CH,Ke YY,Chien YH,Hsiao KJ,Liu TTdoi
10.1007/s10528-014-9657-6subject
Has Abstractpub_date
2014-10-01 00:00:00pages
415-29issue
9-10eissn
0006-2928issn
1573-4927journal_volume
52pub_type
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journal_title：Biochemical genetics
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pub_type： 杂志文章
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更新日期：1991-12-01 00:00:00
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pub_type： 杂志文章
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