Molecular diagnosis of SLC25A13 gene mutation in neonatal intrahepatic cholestasis caused by citrin deficiency

VernacularTitle:Citrin缺陷所致新生儿肝内胆汁淤积症SLC25A13基因突变的分子诊断
Author: Xin YUE ; Xiaoli XIONG ; Peiwei ZHAO ; Shiqiong ZHOU ; Suqi YAN ; Hong MEI ; Xuelian HE
Publication Type:Journal Article
Keywords: intrahepatic cholestasisi; SLC25A13 gene; neonate
From: Journal of Clinical Pediatrics 2014;(4):312-315
CountryChina
Language:Chinese
Abstract: Objective To investigate SLC25A13gene mutation in neonatal intrahepatic cholestasis caused by citrin defi-ciency (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 heterozy-gous 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, hy-poproteinemia, 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.