›› 2014, Vol. 32 ›› Issue (4): 312-315.

• Original Article • Previous Articles     Next Articles

Molecular diagnosis of SLC25A13 gene mutation in neonatal intrahepatic cholestasis caused by citrin deficiency YUE Xin1, XIONG Xiaoli2, ZHAO Peiwei1, ZHOU Shiqiong3, YAN Suqi2, MEI Hong3, HE Xuelian1 (1.Clinical Research Center, 2.Department of Integrated Traditional and Western Medicine, 3. Department of Gastroenterology, Wuhan Children's Hospital, Wuhan 430016, Hubei, China)

  

  • Received:2013-11-09 Online:2014-04-15 Published:2014-04-15

Abstract:  Objective To investigate SLC25A13 gene mutation in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). Method A total of 17 children with NICCD were collected. PCR-RFLP method was used to analyze the most common eight mutations of SLC25A13 gene in Chinese populations and results were analyzed together with routine laboratory examinations. Results In the 17 NICCD patients, there were six cases of homozygous mutation, three cases of compound heterozygous mutation and eight cases of single heterozygous mutation in SLC25A13 gene. Three kinds of mutations detected were 851del4 (73.1%), 1638ins23 (11.5%) and IVS6+5G>A (15.4%). The seventeen cases showed classical NICCD symptoms of low birth weight, pathological jaundice. And laboratory data suggested liver dysfunction, hyperbilirubinemia, hyperbileacidemia, hypoproteinemia, hypoglycemia, coagulation disorders, hyperlactacidemia and hyperammonemia. Conclusions 851del4, 1638ins23 and IVS6+5G>A are hot spots of SLC25A13 gene mutation in Chinese populations. PCR-RFLP is a rapid, convenient and reliable technology for NICCD molecular diagnosis.