30 May 2023 : Case report
Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease
Jin-Ping Zhang12ABCDEFG, Zhi-Jun Zhu12AF*, Li-Ying Sun123EFG, Lin Wei
12AG, Wei Qu12CG, Zhi-Gui Zeng12CD, Hai-Ming Zhang12CE, Ying Liu123BD
DOI: 10.12659/AOT.939893
Ann Transplant 2023; 28:e939893
Table 4 Genes of the 4 MSUD children.
| MSUD donor | Recipient | Gene | Chromosome position | Reference transcript | Exon | Nucleotide | Amino acid |
|---|---|---|---|---|---|---|---|
| 1 | Case 1 and Case 5 | BCKDHB | chr6: 80837300-80837300 | NM_183050 | Exon2 | c.233dupC | p.S79fs*5 |
| 2 | Case 2 | BCKDHA | Chr19: 41410639-41410639 | NM_000709 | Exon2 | c.111dupC | p.L35fs*28 |
| 3 | Case 3 | BCKDHB | chr6: 80877385-80881117 | NM_183050 | Exon4-6 | c.367_765del | p.T118fs |
| 4 | Case 4 | BCKDHA | chr19: 41424570-41424571 | NM_000709 | Exon9 | c.1310_1311del | p.H437fs |
| MSUD – maple syrup urine disease. | |||||||