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Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene
Author(s) -
Palmer R.A.,
Elder G.H.,
Barrett D_f.,
Keohane S.G.
Publication year - 2001
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1046/j.1365-2133.2001.04147.x
Subject(s) - protoporphyrinogen oxidase , compound heterozygosity , exon , heterozygote advantage , porphyria , genetics , mutation , splice site mutation , medicine , endocrinology , gene , microbiology and biotechnology , biology , allele , alternative splicing
Homozygous variegate porphyria results from mutations in both alleles of the protoporphyrinogen oxidase ( PPOX ) gene. Our patient, a 36‐year‐old woman, has severe cutaneous manifestations. Her clinical and biochemical features are similar to the few other reported cases, including onset before 18 months of age, photosensitivity, absence of acute porphyric attacks, and elevated erythrocyte protoporphyrin. Mutation analysis of the PPOX gene revealed an in‐frame 12 bp insert (c. 657–658 ins AAGGCCAGCGCC) encoding lysine–alanine–serine–alanine (KASA), and a G to A transition at the splice donor site of exon 11 (IVS 11–1 G→A). Neither of these mutations has been reported previously. Our patient's mother has the splice site mutation and has had acute porphyric episodes. A maternal first cousin has the same mutation but no clinical manifestations. The medical and family history of our patient's father is uncertain.