Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria

Victoria E Parera, Rita H Koole, Gardi Minderman, Annie Edixhoven, Maria V Rossetti, Alcira Batlle, and Felix WM de Rooij
Erythropoietic Protoporphyria (EPP) is an inherited disorder of porphyrin metabolism that is caused by the decreased activity of ferrochelatase (FECH) and is characterized by photosensitivity. This disorder presents in early childhood with burning, swelling, itching and painful erythema in sun-exposed areas, and chronic liver disease may become a complication. To further study the molecular underpinnings of this disorder, Parera et al. characterized five Argentinean EPP families and detected three novel mutations, one deletion and two splicing mutations. The authors also confirmed two previously described mutations: C343T and 400delA, both of which produce stop codons in the FECH gene. These molecular studies contribute to our understanding of disease and may allow the accurate diagnosis of asymptomatic carriers as well as help identify prognostic factors for EPP.

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Posted by MolMed Editor on Dec 3, 2009 12:00 AM CST