A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

AUTOR(ES)

Ribeiro, Georgina Severo, Marchiori, Paulo Eurípedes, Hirata, Mário Hiroyuki, Rebecchi, Ivanise, Ozaki, Adriana Natsue, Nagai, Maria Aparecida, Santos, Mariana Lopes dos, Oliveira, Raimundo Antonio Gomes, Barretto, Orlando Cesar de Oliveira

FONTE

Genetics and Molecular Biology

DATA DE PUBLICAÇÃO

2007

RESUMO

Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.3. We describe a novel mutation of the HMBS gene, a de novo 3-base deletion in the splicing donor site of intron 3 (IVS3+2_4delTGG) in a woman affected by AIP. RT-PCR analysis revealed an abnormal HMBS mRNA, compatible with exon 3 skipping.

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