PMC9452728_01
Family tree and genetic analysis of Family 1. (A) Proband III-3 was diagnosed with DJS. (B) Sanger sequencing revealed a compound heterozygous (c.2980delA and c.1834 C>T) ABCC2 mutation in III-3. IV-1 shared the heterozygous c.1834 C>T variant.
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F1
In Family 1, a 29-year-old woman (Patient 1) was born to nonconsanguineous parents although her grandparents were cousins (Figure 1A). The timeline with relevant data for Patient 1 is shown in Supplementary Figure S1. Her son also shared the heterozygous c.1834C>T ABCC2 mutation (Figure 1B; Table 2).
The family tree and genetic analysis of Family 2. (A) Proband II-2 suffered from DJS. (B) Direct sequencing showed a compound heterozygous (c.2980delA and c.4465_4473 delinsGGCCCACAG) ABCC2 mutation in II-2. I-1 was affected with the heterozygous c.4465_4473delinsGGCCCACAG mutation. II-2 harbored the heterozygous c.2980delA variant. (C) Locations of the mutations in MRP2. The schematic diagram of MRP2 was generated using Protter software (http://wlab.ethz.ch/protter/start/). MSD: membrane spanning domains, NBD: nucleotide binding domains.
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F2
He had a previously free medical history and no special personal and family history (Figure 2A). The lower margin of the liver exceeded the lower costal margin (Table 1, Supplementary Figure S2). The WES indicated that Patient 2 harbored the heterozygous c.2980delA variant inherited from his mother and the heterozygous c.4465_4473delinsGGCCCACAG mutation inherited from his father (Figure 2B; Table 2).
PMC9452728_02
The family tree and genetic analysis of Family 2. (A) Proband II-2 suffered from DJS. (B) Direct sequencing showed a compound heterozygous (c.2980delA and c.4465_4473 delinsGGCCCACAG) ABCC2 mutation in II-2. I-1 was affected with the heterozygous c.4465_4473delinsGGCCCACAG mutation. II-2 harbored the heterozygous c.2980delA variant. (C) Locations of the mutations in MRP2. The schematic diagram of MRP2 was generated using Protter software (http://wlab.ethz.ch/protter/start/). MSD: membrane spanning domains, NBD: nucleotide binding domains.
fgene-13-895247-g002.jpg
PMC9452728_02_fgene-13-895247-g002.jpg
F2
He had a previously free medical history and no special personal and family history (Figure 2A). The lower margin of the liver exceeded the lower costal margin (Table 1, Supplementary Figure S2). The WES indicated that Patient 2 harbored the heterozygous c.2980delA variant inherited from his mother and the heterozygous c.4465_4473delinsGGCCCACAG mutation inherited from his father (Figure 2B; Table 2).