Ontology highlight
ABSTRACT: 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 (?(2)?=?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.
SUBMITTER: Song YZ
PROVIDER: S-EPMC3777997 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Song Yuan-Zong YZ Zhang Zhan-Hui ZH Lin Wei-Xia WX Zhao Xin-Jing XJ Deng Mei M Ma Yan-Li YL Guo Li L Chen Feng-Ping FP Long Xiao-Ling XL He Xiang-Ling XL Sunada Yoshihide Y Soneda Shun S Nakatomi Akiko A Dateki Sumito S Ngu Lock-Hock LH Kobayashi Keiko K Saheki Takeyori T
PloS one 20130919 9
<h4>Background</h4>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 ...[more]