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kobayashi, mutations, saheki, patients, article, citrin, pubmed, mutation, slca, japanese, google, scholar, niccd, deficiency, ctln, cas, found, chinese, carrier, gene, type, china, citrullinemia, analysis, asia, japan, detected, dna, genet, adultonset, table, east, carriers, frequency, haplotype, neonatal, nature, taiwan, homozygotes, areas, distribution, populations, shown, andor, patient, liver, population, hum, lee, korean,

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nature portfolio permissions reprints scientific research privacy policy nature clear regional difference ef-hand ca2+-binding motifs advertising ca2+-stimulated aspartate-glutamate carrier social media author information authors gene research development exploratory research research centre tze-tze liu szu-hui chiang m-mulv reverse transcriptase author correspondence fluorescent-labeled [r110]-dutp protein/lipid-rich foods kwang-jen hsiao type ii citrullinemia [r110]-labeled pcr-product y-chromosomal dna haplogroups yu-lung lau y-chromosomal dna variation citrullinaemia type ii permissions anti-citrin antibody revealed brain/muscle-type agc national yang-ming university infantile citrullinemia caused aspartate glutamate carrier aspartate-glutamate carrier multiple genescan/snapshot methods living-related liver transplantation lap-chee tsui full size image adult onset idiopathic neonatal hepatitis references ben-shalom east asians tested privacy fourth ef-hand late onset patients mitochondrial transmembrane domains intrahepatic cholestasis increased plasma citrulline dried blood spots

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         headline:Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
         description:Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel. Three mutations found in Chinese and Vietnamese patients were the same as those in Japanese patients. In the present study, we identified a novel mutation IVS6+1G>C in a Japanese CTLN2 patient and widely screened 12 SLC25A13 mutations found in Japanese patients in control individuals from East Asia to confirm our preliminary results that the carrier frequency was high in Asian populations. Mutations 851–854del and 1638–1660dup were found in all Asian countries tested, and 851–854del associated with 290-haplotype in microsatellite marker D7S1812 was especially frequent. Other mutations frequently detected were IVS11+1G>A in Japanese and Korean, S225X in Japanese, and IVS6+5G>A in Chinese populations. We found a remarkable difference in carrier rates in China (including Taiwan) between north (1/940) and south (1/48) of the Yangtze River. We detected many carriers in Chinese (64/4169 = 1/65), Japanese (20/1372 = 1/69) and Korean (22/2455 = 1/112) populations, suggesting that over 80,000 East Asians are homozygotes with two mutated SLC25A13 alleles.
         datePublished:2005-07-01T00:00:00Z
         dateModified:2005-07-01T00:00:00Z
         pageStart:338
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            Aspartate-glutamate carrier (AGC)
            Citrin
            Carrier frequency
             SLC25A13
             D7S1812
            Human Genetics
            Molecular Medicine
            Gene Function
            Gene Expression
            Gene Therapy
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      headline:Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
      description:Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel. Three mutations found in Chinese and Vietnamese patients were the same as those in Japanese patients. In the present study, we identified a novel mutation IVS6+1G>C in a Japanese CTLN2 patient and widely screened 12 SLC25A13 mutations found in Japanese patients in control individuals from East Asia to confirm our preliminary results that the carrier frequency was high in Asian populations. Mutations 851–854del and 1638–1660dup were found in all Asian countries tested, and 851–854del associated with 290-haplotype in microsatellite marker D7S1812 was especially frequent. Other mutations frequently detected were IVS11+1G>A in Japanese and Korean, S225X in Japanese, and IVS6+5G>A in Chinese populations. We found a remarkable difference in carrier rates in China (including Taiwan) between north (1/940) and south (1/48) of the Yangtze River. We detected many carriers in Chinese (64/4169 = 1/65), Japanese (20/1372 = 1/69) and Korean (22/2455 = 1/112) populations, suggesting that over 80,000 East Asians are homozygotes with two mutated SLC25A13 alleles.
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         Adult-onset type II citrullinemia (CTLN2)
         Aspartate-glutamate carrier (AGC)
         Citrin
         Carrier frequency
          SLC25A13
          D7S1812
         Human Genetics
         Molecular Medicine
         Gene Function
         Gene Expression
         Gene Therapy
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            type:Organization
      name:Szu-Hui Chiang
      affiliation:
            name:Taipei Veterans General Hospital
            address:
               name:Taipei Veterans General Hospital, Taiwan, ROC
               type:PostalAddress
            type:Organization
      name:Kwang-Jen Hsiao
      affiliation:
            name:Taipei Veterans General Hospital
            address:
               name:Taipei Veterans General Hospital, Taiwan, ROC
               type:PostalAddress
            type:Organization
      name:Yu-Lung Lau
      affiliation:
            name:The University of Hong Kong, Hong Kong SAR
            address:
               name:Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, People’s Republic of China
               type:PostalAddress
            type:Organization
      name:Lap-Chee Tsui
      affiliation:
            name:The University of Hong Kong, Hong Kong SAR
            address:
               name:Vice Chancellor’s Office, The University of Hong Kong, Hong Kong SAR, People’s Republic of China
               type:PostalAddress
            type:Organization
      name:Dong Hwan Lee
      affiliation:
            name:Soonchunhyang University Hospital
            address:
               name:Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea
               type:PostalAddress
            type:Organization
      name:Takeyori Saheki
      affiliation:
            name:Kagoshima University Graduate School of Medical and Dental Sciences
            address:
               name:Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
               type:PostalAddress
            type:Organization
PostalAddress:
      name:Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
      name:Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
      name:Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
      name:Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
      name:Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
      name:Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
      name:Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan
      name:Division of Gene Research, Research Centre for Life Science Resources, Kagoshima University, Japan
      name:Division of Gene Research, Research Centre for Life Science Resources, Kagoshima University, Japan
      name:Department of Pediatrics, The First Hospital of Peking University, China
      name:Genome Research Center, National Yang-Ming University, Taiwan, ROC
      name:Taipei Veterans General Hospital, Taiwan, ROC
      name:Taipei Veterans General Hospital, Taiwan, ROC
      name:Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong SAR, People’s Republic of China
      name:Vice Chancellor’s Office, The University of Hong Kong, Hong Kong SAR, People’s Republic of China
      name:Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea
      name:Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, Japan

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