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Biochemical Genetics

, Volume 52, Issue 9–10, pp 415–429 | Cite as

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 LiuEmail author
Article

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.

Keywords

Propionic acidemia Propionyl-CoA carboxylase Mutation spectrum Large deletion Taiwan 

Notes

Acknowledgments

The work was financially supported by the National Science Council in Taiwan, under grant no. NSC 90-2320-B-010-089, and the Taipei City Government, Taiwan, under grant no. 10101-62-048.

Supplementary material

10528_2014_9657_MOESM1_ESM.doc (1.4 mb)
Supplementary material 1 (DOC 1459 kb)

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Yen-Hui Chiu
    • 1
    • 2
  • Yu-Ning Liu
    • 2
  • Wei-Ling Liao
    • 2
  • Ying-Chen Chang
    • 3
  • Shuan-Pei Lin
    • 4
  • Chia-Chi Hsu
    • 5
    • 6
  • Pao-Chin Chiu
    • 5
    • 7
  • Dau-Ming Niu
    • 8
  • Chung-Hsing Wang
    • 9
  • Yu-Yuan Ke
    • 6
  • Yin-Hsiu Chien
    • 10
  • Kwang-Jen Hsiao
    • 1
    • 11
  • Tze-Tze Liu
    • 1
    • 3
    Email author
  1. 1.Department of Education and ResearchTaipei City HospitalTaipeiTaiwan
  2. 2.Institute of GeneticsNational Yang-Ming UniversityTaipeiTaiwan
  3. 3.VYM Genome Research CenterNational Yang-Ming UniversityTaipeiTaiwan
  4. 4.Department of PediatricsMackay Memorial HospitalTaipeiTaiwan
  5. 5.Faculty of Medicine, School of MedicineNational Yang-Ming UniversityTaipeiTaiwan
  6. 6.Section of Genetics and Metabolism, Department of PediatricsTaichung Veterans General HospitalTaichungTaiwan
  7. 7.Department of PediatricsKaohsiung Veterans General HospitalKaohsiungTaiwan
  8. 8.Department of PediatricsTaipei Veterans General HospitalTaipeiTaiwan
  9. 9.Department of Pediatrics, Children’s HospitalChina Medical University and HospitalsTaichungTaiwan
  10. 10.Department of Medical GeneticsNational Taiwan University HospitalTaipeiTaiwan
  11. 11.Preventive Medicine FoundationTaipeiTaiwan

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