Table 2.

UGT1A1 Mutations in Infants With BMJ

Case No.211G→A G71R1456T→G Y486DA(TA)7TAAOther Mutation
1HomoNN
2HeteroNN
3HeteroNN
4HomoNN
5NNNDistal element*
6HeteroNN
7HomoNN
8HomoHeteroN
9HomoNN
10HeteroNHetero
11HomoNN
12HomoNN
13HeteroNN
14NNN
15HeteroNN
16HeteroNN
17HomoNN
  • Homo indicates homozygous mutation; hetero, heterozygous mutation; N, no mutation.*Distal element16: a heterozygous mutation on the distal element of UGT1A1