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SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China


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タイトル: SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China
著者: Song, Yuan-Zong / Zhang, Zhan-Hui / Lin, Wei-Xia / Zhao, Xin-Jing / Deng, Mei / Ma, Yan-Li / Guo, Li / Chen, Feng-Ping / Long, Xiao-Ling / He, Xiang-Ling / Sunada, Yoshihide / Soneda, Shun / Nakatomi, Akiko / Dateki, Sumito / Ngu, Lock-Hock / Kobayashi, Keiko / Saheki, Takeyori
発行日: 2013年 9月19日
出版者: Public Library of Science
引用: PLoS ONE, 8(9), e74544; 2013
抄録: Background:The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical phenotypes such as Adult-onset Citrullinemia Type II (CTLN2) and Neonatal Intrahepatic Cholestasis caused by Citrin Deficiency (NICCD). The analyses of SLC25A13 gene and its protein/mRNA products remain reliable tools for the definitive diagnoses of CD patients, and so far, the SLC25A13 mutation spectrum in Chinese CD patients has not been well-characterized yet.Methods and Results:By means of direct DNA sequencing, cDNA cloning and SNP analyses, 16 novel pathogenic mutations, including 9 missense, 4 nonsense, 1 splice-site, 1 deletion and 1 large transposal insertion IVS4ins6kb (GenBank accession number KF425758), were identified in CTLN2 or NICCD patients from China, Japan and Malaysia, respectively, making the SLC25A13 variations worldwide reach the total number of 81. A large NICCD cohort of 116 Chinese cases was also established, and the 4 high-frequency mutations contributed a much larger proportion of the mutated alleles in the patients from south China than in those from the north (χ2 = 14.93, P<0.01), with the latitude of 30°N as the geographic dividing line in mainland China.Conclusions:This paper further enriched the SLC25A13 variation spectrum worldwide, and formed a substantial contribution to the in-depth understanding of the genotypic feature of Chinese CD patients.
URI: http://hdl.handle.net/10069/33951
DOI: 10.1371/journal.pone.0074544
権利: © 2013 Song et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
資料タイプ: Journal Article
原稿種類: publisher
出現コレクション:130 学術雑誌論文

引用URI : http://hdl.handle.net/10069/33951

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