1325C>G) in patient 2 and patient 3, and one heterozygous mutation on ABCB6 (c.
1270T>C of ABCB6 gene, leading to a change of Tyr to His at an evolutionary conserved 424 amino acid in protein sequence, is absent in all control databases and has been reported in two DUH patients from a Chinese family.
[sup] Mutations in the ABCB6 gene (ATP-binding cassette transporter) have been reported to be the pathogenesis mutation in DUH patients in 2013 by Zhang et al .
As ABCB6 contains 19 exons and spans 9 kbp, and ADAR1 contains 15 exons and spans up to 40 kbp.
A novel mutation in the ADAR1 gene and a recurrent mutation in ABCB6 gene were identified in two pedigrees.