caa a22 4500 445888814 CHVBK 20180317145608.0 cr unu---uuuuu 170323e20110401xx s 000 0 eng 10.1007/s00535-010-0329-y doi (NATIONALLICENCE)springer-10.1007/s00535-010-0329-y The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia [Elektronische Daten] [Hai-Yan Fu, Shao-Ren Zhang, Xiao-Hong Wang, Takeyori Saheki, Keiko Kobayashi, Jian-She Wang] Background: SLC25A13 gene mutations cause citrin deficiency, which leads to neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Information on the mutation spectrum of SLC25A13 in the Chinese population is limited. The aim of this study was to explore the mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and various forms of aminoacidemia. Methods: Sequence analyses were performed on 39 infants with intrahepatic cholestasis and various forms of aminoacidemia. Novel mutations were subjected to homology and structural analyses. Western blots were performed when liver specimens available. Results: Genetic testing revealed the presence of SLC25A13 gene mutations (9 heterozygotes, 6 homozygotes and 13 compound heterozygotes) in 28 infants. Subsequent Western blot analysis revealed 22 cases of citrin deficiency, accounting for 56.4% of the 39 patients. Twelve types of mutations, including nine known mutations and three novel mutations, were found. Of the 49 mutated alleles, known ones include 851del4 (26 alleles, 53.1%), 1638ins23 (6 alleles, 12.2%), IVSl6ins3kb (3 alleles, 6.1%), IVS6+5G>A (2 alleles, 4.1%), E601K (2 alleles, 4.1%) and IVS11+1G>A, R184X, R360X and R585H (1 allele each, 2.0%). The three novel mutations were a splice site change (IVS6+1G>A), a deletion mutation (1092_1095delT) and a missense mutation (L85P), each in one allele. Conclusions: The mutation spectrum of the SLC25A13 gene in a Chinese population of infants with intrahepatic cholestasis with various forms of aminoacidemia was found to be different from that of other population groups in East Asia. The SLC25A13 gene mutation is the most important cause of infantile intrahepatic cholestasis with various forms of aminoacidemia. Springer, 2010 Aminoacidemia nationallicence Infants nationallicence Intrahepatic cholestasis nationallicence Mutation nationallicence NICCD nationallicence Fu Hai-Yan The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, 201102, Minhang District, Shanghai, People's Republic of China aut Zhang Shao-Ren The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, 201102, Minhang District, Shanghai, People's Republic of China aut Wang Xiao-Hong The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, 201102, Minhang District, Shanghai, People's Republic of China aut Saheki Takeyori Institute for Health Sciences, Tokushima Bunri University, 770-8514, Tokushima, Japan aut Kobayashi Keiko Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 890-8544, Kagoshima, Japan aut Wang Jian-She The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, 201102, Minhang District, Shanghai, People's Republic of China aut Journal of Gastroenterology Springer Japan 46/4(2011-04-01), 510-518 0944-1174 46:4<510 2011 46 535 https://doi.org/10.1007/s00535-010-0329-y text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00535-010-0329-y text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Fu Hai-Yan The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, 201102, Minhang District, Shanghai, People's Republic of China aut NATIONALLICENCE 700 1- Zhang Shao-Ren The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, 201102, Minhang District, Shanghai, People's Republic of China aut NATIONALLICENCE 700 1- Wang Xiao-Hong The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, 201102, Minhang District, Shanghai, People's Republic of China aut NATIONALLICENCE 700 1- Saheki Takeyori Institute for Health Sciences, Tokushima Bunri University, 770-8514, Tokushima, Japan aut NATIONALLICENCE 700 1- Kobayashi Keiko Department of Molecular Metabolism and Biochemical Genetics, Kagoshima University Graduate School of Medical and Dental Sciences, 890-8544, Kagoshima, Japan aut NATIONALLICENCE 700 1- Wang Jian-She The Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, 399 Wanyuan Road, 201102, Minhang District, Shanghai, People's Republic of China aut NATIONALLICENCE 773 0- Journal of Gastroenterology Springer Japan 46/4(2011-04-01), 510-518 0944-1174 46:4<510 2011 46 535 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer