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

• Tipo: Artigo em Revista Científica Internacional
• Data: 2011

Autores

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

Revista

Título: European Journal of Dermatology

Vol. 21

Páginas: 479-483

ISSN: 1167-1122

Editora: Libbey

Indexação

ISI Web of Knowledge - 2 Citações

Scopus - 4 Citações

Outras Informações

ID Authenticus: 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 5