Early-onset hepatic fibrosis linking to a novel PYROXD2 mutation: A case report

Figure 1 Gene mutation. A: Whole-exome sequencing results of a PYROXD2 pathogenic variant in the patient; B: Sanger sequencing of the targeted PYROXD2 variation in the patient. The arrow indicates the alteration in the PYROXD2 gene, specifically the c.1082dupT variant, identified in the patient; C: Sanger sequencing of the targeted PYROXD2 variation in his family members. His mother carried the wild-type genotype; D: His father harbored the same variant identified in the patient; E: Pedigree of PYROXD2 mutation in the proband’s family. The proband (II-1) and his father (I-1) carried the heterozygous PYROXD2 mutation c.1082dupT (p.Phe361 Leu fs*50) while his mother carried the wild-type genotype.