Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature

Figure 1 Genomic DNA sequences in exon 8 of the AKR1D1 gene in the patient and his family. A: Compound heterozygote in the patient (c.919C > T, R307C); B: No variant in his father; C: Heterozygote in his mother; D: Heterozygote in his brother; E: Loss of heterozygosity in exons 1-9 of AKR1D1 in the patient. AKR1D1: Aldo-ketoreductase family 1 member D1.

Figure 2 Multiple sequence alignments from different species and structural model of the aldo-ketoreductase family 1 member D1 protein. A: Multiple sequence alignments; the red outline in the alignments shows the amino acid affected by the mutation; B: Wild-type model; C: The mutant model shows the alteration of the amino acid side chain caused by the R307C mutation.

Figure 3 Responses of liver function after treatment with ursodeoxycholic acid and chenodeoxycholic acid. A: Transaminase 1; B: Bilirubin. UDCA: Ursodeoxycholic acid; CDCA: Chenodeoxycholic acid.