Abstract
Variegate Porphyria (VP) is one of the acute hepatic porphyrias, and is clinically characterised by skin lesions and acute neuropsychiatric/visceral attacks that occur separately or together. The disorder is caused by a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway, and a number of mutations have been described for the corresponding gene (PPOX). Here we report a genetic analysis of VP in Italy, and the identification of six novel and three previously characterised mutations from nine affected individuals and families. Among those newly identified, two mutations were small deletions (c.418_419delAA; c.759delA), leading to the formation of premature stop codons, two were splicing defects (IVS10+2T>G; IVS12+1G>C), one was a nonsense (c.384G>A=p.W128X) and one a missense mutation (c.848T>A=I283N). This is the first study of the molecular genetics of Variegate Porphyria in patients of Italian origin, and the finding of six novel mutations out of nine identified confirms the genetic heterogeneity observed for this disorder.
| Original language | English |
|---|---|
| Pages (from-to) | 448 |
| Number of pages | 1 |
| Journal | Human Mutation |
| Volume | 21 |
| Issue number | 4 |
| Publication status | Published - Apr 2003 |
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ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Genetic analysis of variegate porphyria (VP) in Italy : identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene. / D'Amato, Mauro; Bonuglia, Margherita; Barile, Simona; Griso, Daniela; Macri, Annelisa; Biolcati, Gianfranco.
In: Human Mutation, Vol. 21, No. 4, 04.2003, p. 448.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetic analysis of variegate porphyria (VP) in Italy
T2 - identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.
AU - D'Amato, Mauro
AU - Bonuglia, Margherita
AU - Barile, Simona
AU - Griso, Daniela
AU - Macri, Annelisa
AU - Biolcati, Gianfranco
PY - 2003/4
Y1 - 2003/4
N2 - Variegate Porphyria (VP) is one of the acute hepatic porphyrias, and is clinically characterised by skin lesions and acute neuropsychiatric/visceral attacks that occur separately or together. The disorder is caused by a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway, and a number of mutations have been described for the corresponding gene (PPOX). Here we report a genetic analysis of VP in Italy, and the identification of six novel and three previously characterised mutations from nine affected individuals and families. Among those newly identified, two mutations were small deletions (c.418_419delAA; c.759delA), leading to the formation of premature stop codons, two were splicing defects (IVS10+2T>G; IVS12+1G>C), one was a nonsense (c.384G>A=p.W128X) and one a missense mutation (c.848T>A=I283N). This is the first study of the molecular genetics of Variegate Porphyria in patients of Italian origin, and the finding of six novel mutations out of nine identified confirms the genetic heterogeneity observed for this disorder.
AB - Variegate Porphyria (VP) is one of the acute hepatic porphyrias, and is clinically characterised by skin lesions and acute neuropsychiatric/visceral attacks that occur separately or together. The disorder is caused by a partial deficiency of protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway, and a number of mutations have been described for the corresponding gene (PPOX). Here we report a genetic analysis of VP in Italy, and the identification of six novel and three previously characterised mutations from nine affected individuals and families. Among those newly identified, two mutations were small deletions (c.418_419delAA; c.759delA), leading to the formation of premature stop codons, two were splicing defects (IVS10+2T>G; IVS12+1G>C), one was a nonsense (c.384G>A=p.W128X) and one a missense mutation (c.848T>A=I283N). This is the first study of the molecular genetics of Variegate Porphyria in patients of Italian origin, and the finding of six novel mutations out of nine identified confirms the genetic heterogeneity observed for this disorder.
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M3 - Article
VL - 21
SP - 448
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 4
ER -