title: [Analysis of clinical features and SLC25A13 gene mutations in a family affected with neonatal intrahepatic cholestasis].
abstract: OBJECTIVE
  To analyze the clinical features and potential mutations of the SLC25A13 gene in a boy affected with neonatal intrahepatic cholestasis.
  
  
  METHODS
  Clinical data and peripheral venous blood sample of the child, and peripheral venous blood samples of both parents, were collected. All coding exons of the SLC25A13 gene were amplified with PCR and subjected to direct DNA sequencing.
  
  
  RESULTS
  The boy was found to be a compound heterozygote carrying c.851_854delGTAT and IVS16ins3kb mutations of the SLC25A13 gene, which were respectively inherited from his mother and father.
  
  
  CONCLUSIONS
  Based on its clinical and genetic features, the patient was diagnosed with neonatal intrahepatic cholestasis caused by citrin deficiency.
authors: Chengdu New Genegle Clinical Diagnostic Laboratory. Chengdu, Sichuan 610041, China; Department of Pediatric Endocrinology and Inborn Error of Metabolism, Chengdu Women and Children's Central Hospital, Chengdu, Sichuan 610091, China. Email: cxr1216@sina.com.
authors: Ling
authors: L
authors: Wang
authors: Xinran
authors: X
authors: Cheng
authors: Li
authors: L
authors: Yan
authors: Yan
authors: Y
authors: Wei
authors: Fang
authors: F
authors: Tang
authors: Xin
authors: X
authors: Dong
authors: Yanjiao
authors: Y
authors: Yuan
authors: Yanmei
authors: Y
authors: Xie
mesh_terms: D001483:Base Sequence; D002780:Cholestasis, Intrahepatic / Q000209:etiology / Q000235:genetics*; D020159:Citrullinemia / Q000150:complications*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009154:Mutation; D017384:Sequence Deletion
chemical_list: D033681:Mitochondrial Membrane Transport Proteins; C119629:SLC25A13 protein, human