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Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT)

✍ Scribed by M.D. Cappellini; F. Martinez di Montemuros; D. Tavazzi; S. Fargion; A. Pizzuti; A. Comino; T. Cainelli; G. Fiorelli

Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
89 KB
Volume
17
Category
Article
ISSN
1059-7794

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✦ Synopsis

In this work, we describe seven novel molecular defects in the uroporphyrinogen decarboxylase gene responsible for familial porphyria cutanea tarda in Italian subjects with reduced erythrocyte URO-D activity. Four of these molecular abnormalities (R142Q, L161Q, S219F, P235S) are missense mutations, one (Q206X) is a nonsense mutation, one (IVS8-1 G>C) is a splicing defect causing the exon 9 deletion and one (1107 G>A) is located in the 3' untranslated region of UROD gene. All the amino acid substitutions fall in conserved regions in several organisms suggesting an important role in catalysis or in the protein structure stabilization. Three of these mutations have been detected in more than one subject. These results suggest a molecular heterogeneity at the UROD locus in Italian PCT patients although recurrent mutations have been identified.

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Three new mutations in the uroporphyrino
Three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda
✍ Julie F. McManus; C. Glenn Begley; S. Sassa; Sujiva Ratnaike πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 28 KB πŸ‘ 2 views

We have characterised three new mutations in the uroporphyrinogen decarboxylase gene in familial porphyria cutanea tarda. The first of these was a G to A substitution in the 5' splice junction of exon 4 which generated an mRNA that lacked exon 4. The second was a nonsense mutation in exon 5 which ch