Erythropoietic protoporphyria: a family study and report of a novel mutation in the FECH gene

• Type: Article in International Scientific Journal
• Date: 2011

Authors

Morais, P (Author) Other; Alberto Mota (Author) FMUP; Baudrier, T (Author) Other; Trigo, F (Author) Other; João Paulo Oliveira (Author) FMUP; Cerqueira, R (Author) Other; Palmeiro, A (Author) Other; Tavares, P (Author) Other; Azevedo, F (Author) Other

Journal

Title: European Journal of Dermatology

Vol. 21

Pages: 479-483

ISSN: 1167-1122

Publisher: Libbey

Indexing

ISI Web of Knowledge - 2 Citations

Scopus - 4 Citations

Other information

Authenticus ID: P-002-PTM

DOI: 10.1684/ejd.2011.1361

Abstract (EN): Erythropoietic protoporphyria (EPP) is a rare inherited disorder of heme biosynthesis mostly caused by a deficient activity of the enzyme ferrochelatase (FECH), and consequent accumulation of protoporphyrin (PP) in various tissues. Clinical manifestations include a childhood onset, cutaneous photosensitivity and, sometimes, hepatobiliary disease. We report a 16-year-old male with EPP characterized by acute episodes of painful photosensitivity since early infancy, permanent changes in the photoexposed skin, microcytic anemia, thrombocytopenia, and mild hepatic dysfunction. His 18-year-old sister presented less acute symptoms with no chronic changes. Lesional biopsy disclosed perivascular deposition of PAS positive hyaline material. Rimington-Cripps test was positive and PP erythrocyte levels were > 9,000 mu g/L (N < 1,600), but normal in their parents and younger brother. Genetic studies in both patients and their mother revealed heterozygosity for a novel mutation (c. 1052delA) in FECH gene of both children, and heterozygosity for the hypomorphic allele IVS3-48T> C in all of them. This confirms the "pseudodominant" inheritance pattern usually observed, explained by the combined presence of a disabling FECH mutation and a common intronic polymorphism affecting the counterpart allele (IVS3-48T> C). Phenotypic heterogeneity for this genotype explains the divergent clinical presentation. This is the first description of a Portuguese family with EPP characterized at the molecular level.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5