Most common SLC25A13 mutation in 400 chinese infants with intrahepatic cholestasis

World Journal of Gastroenterology

Volumn 16, Issue 18, 2010, Pages 2278-2282

  Fu, Hai Yan ^a,b   Zhang, Shao Ren ^a,b   Yu, Hui ^a,b   Wang, Xiao Hong ^a,b   Zhu, Qi Rong ^a,b   Wang, Jian She ^a,b  

^a CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

Author keywords

851del4 mutation; Neonatal intrahepatic cholestasis; Real time fluorescent polymerase chain reaction; SLC25A13 gene

Indexed keywords

CHROMOSOME PROTEIN; PROTEIN SLC25A13; UNCLASSIFIED DRUG;

ACCURACY; ALLELE; ARTICLE; CHINESE; CONTROLLED STUDY; FLUORESCENCE ANALYSIS; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INFANT; INTRAHEPATIC CHOLESTASIS; MAJOR CLINICAL STUDY; MOLECULAR PROBE; MUTATIONAL ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 77952639553     PISSN: 10079327     EISSN: None     Source Type: Journal    
DOI: 10.3748/wjg.v16.i18.2278     Document Type: Article

References (20)

1. Sinasac DS, Crackower MA, Lee JR, Kobayashi K, Saheki T, Scherer SW, Tsui LC. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. Genomics 1999; 62: 289-292
2. Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, Crackower MA, Kondo I, Tsui LC, Scherer SW, Saheki T. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet 1999; 22: 159-163
3. Tazawa Y, Kobayashi K, Ohura T, Abukawa D, Nishinomiya F, Hosoda Y, Yamashita M, Nagata I, Kono Y, Yasuda T, Yamaguchi N, Saheki T. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. J Pediatr 2001; 138: 735-740
4. Ohura T, Kobayashi K, Tazawa Y, Nishi I, Abukawa D, Sakamoto O, Iinuma K, Saheki T. Neonatal presentation of adult-onset type II citrullinemia. Hum Genet 2001; 108: 87-90
5. Ohura T, Kobayashi K, Abukawa D, Tazawa Y, Aikawa J, Sakamoto O, Saheki T, Iinuma K. A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency. Eur J Pediatr 2003; 162: 317-322
6. Tazawa Y, Kobayashi K, Abukawa D, Nagata I, Maisawa S, Sumazaki R, Iizuka T, Hosoda Y, Okamoto M, Murakami J, Kaji S, Tabata A, Lu YB, Sakamoto O, Matsui A, Kanzaki S, Takada G, Saheki T, Iinuma K, Ohura T. Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. Mol Genet Metab 2004; 83: 213-219
7. Ohura T, Kobayashi K, Tazawa Y, Abukawa D, Sakamoto O, Tsuchiya S, Saheki T. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis 2007; 30: 139-144
8. Tamamori A, Okano Y, Ozaki H, Fujimoto A, Kajiwara M, Fukuda K, Kobayashi K, Saheki T, Tagami Y, Yamano T. Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. Eur J Pediatr 2002; 161: 609-613
9. Tomomasa T, Kobayashi K, Kaneko H, Shimura H, Fukusato T, Tabata M, Inoue Y, Ohwada S, Kasahara M, Morishita Y, Kimura M, Saheki T, Morikawa A. Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J Pediatr 2001; 138: 741-743
10. Saheki T, Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet 2002; 47: 333-341
11. Kobayashi K, Ushikai M, Song YZ, Gao HZ, Sheng JS, Tabata A, Okumura F, lkeda S, Saheki T. Overview of Citrin Deficiency: SLC25A13 Mutations and the Frequency. Shiyong Linchuang Erke Zazhi 2008; 23: 1553-1557
12. Tabata A, Sheng JS, Ushikai M, Song YZ, Gao HZ, Lu YB, Okumura F, Iijima M, Mutoh K, Kishida S, Saheki T, Kobayashi K. Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. J Hum Genet 2008; 53: 534-545
13. Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, Lei L, Kawabe K, Taura S, Yang Y, Liu TT, Chiang SH, Hsiao KJ, Lau YL, Tsui LC, Lee DH, Saheki T. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. J Hum Genet 2005; 50: 338-346
14. Yamaguchi N, Kobayashi K, Yasuda T, Nishi I, Iijima M, Nakagawa M, Osame M, Kondo I, Saheki T. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Hum Mutat 2002; 19: 122-130
15. Wang JS, Wang ZL, Wang XH, Zhu QR, Zheng S. The Prognostic Value of Serum Gamma Glutamyltransferase Activity in Chinese Infants with Previously Diagnosed Idiopathic Neonatal Hepatitis. HK J Paediatr 2008; 13: 39-45
16. Guo HM, Wang XH, Zhu QR. Monitoring cytomegalovirus infection in infant with pp65 antigenemia assay. Linchuang Erke Zazhi 2005; 23: 441-442
17. Wang F, Feng WL. Study on the cause of 186 cases with infant hepatitis syndrome. Zhongguo Fuyou Baojian 2005; 10: 1243-1244
18. Chang MH, Hsu HC, Lee CY, Wang TR, Kao CL. Neonatal hepatitis: a follow-up study. J Pediatr Gastroenterol Nutr 1987; 6: 203-207
19. Yeh JN, Jeng YM, Chen HL, Ni YH, Hwu WL, Chang MH. Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. J Pediatr 2006; 148: 642-646
20. Zhao TM, Lee TD. Gm and Km allotypes in 74 Chinese populations: a hypothesis of the origin of the Chinese nation. Hum Genet 1989; 83: 101-110