Novel hydroxymethylbilane synthase gene mutation identified and confirmed in a woman with acute intermittent porphyria: A case report

Figure 2 Gene sequencing and pedigree of the family. A: DNA sequencing showing the mutation c.648_651+1delCCAGG in hydroxymethylbilane synthase gene in the family members; B: Segregation of mutant alleles of the index patient (Ⅲ.2). Solid symbols represent the overt proband indicated by an arrow, symbols with a dot in the middle represent asymptomatic latent family members carrying the mutation.