Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected Proband Jorge.

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Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected Proband Jorge Frank, John McGrath, HaMut Lam, Robert M. Graham, John L.M. Hawk, Angela M. Christiano Journal of Investigative Dermatology Volume 110, Issue 4, Pages 452-455 (April 1998) DOI: 10.1046/j.1523-1747.1998.00148.x Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Mutation analysis in the VP patient in this study and her family members. (A) Clinical findings in the patient on sun-exposed area; erosions, crusts, superficial scars, perioral radial linear scarring. (B) Heteroduplex analysis of the family and a control (C); heteroduplex formation in the proband (P) and her father (F) in exon 6, and the proband (P) and her mother (M) in exon 10 of the PPO gene. (C) Automated sequence of the forward strands of the PCR fragments of exon 6 and exon 10, respectively; G-to-A transition in exon 6 of the proband (lower panel, indicated by an arrow) compared with the control (upper panel), and G-to-A transition in exon 10 of the proband (lower panel, indicated by an arrow) compared with the control (upper panel). (D) Pedigree of the nuclear family; the proband (II/1) is indicated by a filled circle, her parents (I/1 and I/2) are indicated by half-filled symbols. (E) ASO hybridization results: in exon 6, the proband (P) and her father (F) show the mutant allele G169E (lower panel) and the wild-type allele, whereas mother (M) and control (C) only show wild-type allele (upper panel); in exon 10, proband (P) and her mother (M) show the mutant allele G358R (lower panel) and the wild-type allele, whereas father (F) and control (C) only show the wild-type allele (upper panel). Journal of Investigative Dermatology 1998 110, 452-455DOI: (10.1046/j.1523-1747.1998.00148.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 (A) Alignment of deduced amino acid sequences from codons 161 to 180 in exon 6 of human PPO (hPPO), mouse PPO (mPPO), the Hem Y gene product from Bacillus subtillis (hemY), and the yeast Saccharomyces cerevisiae (SC hem 14). The identical residues in codon 169 and the substitution derived from the described missense mutation are shaded and bold. (B) Alignment of deduced amino acid sequences from codons 351 to 370 in exon 10 of human PPO (hPPO) and mouse PPO (mPPO). The identical residues in codon 358 and the substitution derived from the described missense mutation are shaded and bold. Journal of Investigative Dermatology 1998 110, 452-455DOI: (10.1046/j.1523-1747.1998.00148.x) Copyright © 1998 The Society for Investigative Dermatology, Inc Terms and Conditions