title: [SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency].
abstract: OBJECTIVE
  Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) which resulted from mutation in SLC25A13 gene can present transient intrahepatic cholestasis, low birth weight, growth retardation, hypoproteinemia and so on. This study aimed to identify the mutation type of NICCD patients by DNA sequencing.
  
  
  METHODS
  Twenty children diagnosed as NICCD were consented to enroll in this study. PCR assays were performed to amplify the eighteen exons and its flanking sequences of SLC25A13 gene, which were defined as the upstream and downstream 50 bp from starting and ending site of the exons. Then the PCR products were purified and followed by automated DNA sequencing. The IVS16ins3kb mutation was detected by nested PCR and RT-PCR.
  
  
  RESULTS
  Seven genetic variations of SLC25A13, termed as 851del4, 1638ins23, IVS16ins3kb, IVS6+5G>A, c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C), were identified in the subjects, of which c.775C>T (p.Q259X), c.1505C>T (p.P502L) and c.1311C>T (p.C437C) were reported for the first time in NICCD patients. And a compound mutation of［1638ins23+IVS16ins3kb］was also identified. In 20 patients with NICCD, 6 patients were 851del4 homozygotes, 7 patients were compound heterozygotes, and 7 patients were heterozygotes of single mutation. 851del4 was the major mutation type (64%), followed by 1638ins23 (15%), IVS16ins3kb (12%) and IVS6+5G>A (6%).
  
  
  CONCLUSIONS
  851del4 is the major mutation type in Chinese patients with NICCD.
authors.affiliation: Institute of Pediatrics, Shenzhen Children's Hospital, Shenzhen, Guangdong 518026, China.
authors.forename: Peng-Qiang
authors.initials: PQ
authors.lastname: Wen
authors.forename: Guo-Bing
authors.initials: GB
authors.lastname: Wang
authors.forename: Zhan-Ling
authors.initials: ZL
authors.lastname: Chen
authors.forename: Dong
authors.initials: D
authors.lastname: Cui
authors.forename: Quan
authors.initials: Q
authors.lastname: Yuan
authors.forename: Ping
authors.initials: P
authors.lastname: Song
authors.forename: Shu-Li
authors.initials: SL
authors.lastname: Chen
authors.forename: Jian-Xiang
authors.initials: JX
authors.lastname: Liao
authors.forename: Cheng-Rong
authors.initials: CR
authors.lastname: Li
mesh_terms: D002780:Cholestasis, Intrahepatic / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000172:deficiency / Q000235:genetics*; D009154:Mutation; D017422:Sequence Analysis, DNA
chemical_list: D033681:Mitochondrial Membrane Transport Proteins; C119629:SLC25A13 protein, human