Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2005-07

AUTHORS

Yao Bang Lu, Keiko Kobayashi, Miharu Ushikai, Ayako Tabata, Mikio Iijima, Meng Xian Li, Lei Lei, Kotaro Kawabe, Satoru Taura, Yanling Yang, Tze-Tze Liu, Szu-Hui Chiang, Kwang-Jen Hsiao, Yu-Lung Lau, Lap-Chee Tsui, Dong Hwan Lee, Takeyori Saheki

ABSTRACT

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. More... »

PAGES

338

References to SciGraph publications

  • 2002-11. Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation in EUROPEAN JOURNAL OF PEDIATRICS
  • 2004-10. Effects of Citrin Deficiency in the Perinatal Period: Feasibility of Newborn Mass Screening for Citrin Deficiency in PEDIATRIC RESEARCH
  • 2000-12. Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia in HUMAN GENETICS
  • 2003. Aspartate glutamate carrier (citrin) deficiency in MEMBRANE TRANSPORTER DISEASES
  • 2005-06-21. Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches in REVIEWS OF PHYSIOLOGY, BIOCHEMISTRY AND PHARMACOLOGY, VOLUME 94
  • 2002-07-01. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD) in JOURNAL OF HUMAN GENETICS
  • 2003-05. A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency in EUROPEAN JOURNAL OF PEDIATRICS
  • 2003-12. Y-chromosomal DNA haplogroups and their implications for the dual origins of the Koreans in HUMAN GENETICS
  • 1989-09. Gm and Km allotypes in 74 Chinese populations: a hypothesis of the origin of the Chinese nation in HUMAN GENETICS
  • 1999-06. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein in NATURE GENETICS
  • 1988-11. Characteristics of Mongoloid and neighboring populations based on the genetic markers of human immunoglobulins in HUMAN GENETICS
  • 2005-02. Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood in EUROPEAN JOURNAL OF PEDIATRICS
  • 2001-02. Neonatal presentation of adult-onset type II citrullinemia in HUMAN GENETICS
  • 2000. Type II Citrullinemia (Citrin Deficiency): A Mysterious Disease caused by a Defect of Calcium-Binding Mitochondrial Carrier Protein in CALCIUM: THE MOLECULAR BASIS OF CALCIUM ACTION IN BIOLOGY AND MEDICINE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s10038-005-0262-8

    DOI

    http://dx.doi.org/10.1007/s10038-005-0262-8

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1032585655

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/16059747


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