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.
Conclusion: Based on its clinical and genetic features, the patient was diagnosed with neonatal intrahepatic cholestasis caused by citrin deficiency.