Identification of a Large SLC25A13 Deletion via Sophisticated Molecular Analyses Using Peripheral Blood Lymphocytes in an Infant with Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD): A Clinical and Molecular Study

Figure 2

The large deletion mutation in SLC25A13 gene of the infant and his father. Figure 2① depicted the positions of the primer Set 3 and the novel large deletion. The primer sequences were 5′-AAGATTGTTGTTTATGGTGAGAC-3′ for IVS4S3 and 5′-ATGGTTTGCCCGACATGAGTAATC-3′ for J5.6KbDelR1, respectively. In Figure 2②, LA-PCR with the primer Set 3 revealed that the patient (P) and his father (F), but not the mother (M), had an unexpected band of 632 bp in size besides the normal product of 6324 bp. Figure 2③ was a segmental sequencing result of the unexpected PCR product. The arrow indicated the breakpoint arising from the large deletion.