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

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

Content Provider	Springer Nature Link
Author	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
Copyright Year	2014
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.
Starting Page	415
Ending Page	429
Page Count	15
File Format	PDF
ISSN	00062928
Journal	Biochemical Genetics
Volume Number	52
Issue Number	9-10
e-ISSN	15734927
Language	English
Publisher	Springer US
Publisher Date	2014-05-27
Publisher Place	Boston
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Propionic acidemia Propionyl-CoA carboxylase Mutation spectrum Large deletion Taiwan Human Genetics Biochemistry Zoology Medical Microbiology
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine Biochemistry Molecular Biology Ecology, Evolution, Behavior and Systematics

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