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Homozygous variegate porphyria in South Africa: genotypic analysis in two cases.

Abstract：

:Variegate porphyria is an autosomal dominant disorder of heme metabolism which results from decreased activity of the enzyme protoporphyrinogen oxidase. Clinically, the disease manifests postpubertally and is characterized by photocutaneous sensitivity and/or acute neurovisceral crises. However, in homozygous variegate porphyria, onset of the disease usually occurs in infancy with severe skin manifestations. The molecular basis of variegate porphyria in two severely affected probands in two South African families is described. Mutation detection included combined SSCP-heteroduplex analysis followed by direct sequencing. The unrelated probands both had the common R59W mutation while the other lesion was Y348C or R138P (both novel mutations), causing homozygous variegate porphyria.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Corrigall AV,Hift RJ,Davids LM,Hancock V,Meissner D,Kirsch RE,Meissner PN

doi

10.1006/mgme.2000.2975

subject

Has Abstract

pub_date

2000-04-01 00:00:00

pages

323-30

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(00)92975-5

journal_volume

69

pub_type

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