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中国当代儿科杂志  2011, Vol. 13 Issue (4): 303-308    DOI:
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SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency
WEN Peng-Qiang, WANG Guo-Bing, CHEN Zhan-Ling, CUI Dong, YUAN Quan, SONG Ping, CHEN Shu-Li, LIAO Jian-Xiang, LI Cheng-Rong
Institute of Pediatrics, Shenzhen Children's Hospital, Shenzhen, Guangdong 518026, China. Email: rogasan@gmail.com
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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.
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Articles by authors
WEN Peng-Qiang
WANG Guo-Bing
CHEN Zhan-Ling
CUI Dong
YUAN Quan
SONG Ping
CHEN Shu-Li
LIAO Jian-Xiang
LI Cheng-Rong
Key wordsCitrin deficiency      Neonatal intrahepatic cholestasis      SLC25A13 gene      Jaundice      Neonate     
    
PACS: R722.11  
Cite this article:   
WEN Peng-Qiang,WANG Guo-Bing,CHEN Zhan-Ling et al. SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency[J]. 中国当代儿科杂志, 2011, 13(4): 303-308.
WEN Peng-Qiang,WANG Guo-Bing,CHEN Zhan-Ling et al. SLC25A13 gene analysis in neonates with intrahepatic cholestasis caused by citrin deficiency[J]. CJCP, 2011, 13(4): 303-308.
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