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  • Title: Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.
    Author: Guillén-Navarro E, Carbonell P, Glover G, Sánchez-Solís M, Fernández-Barreiro A.
    Journal: Ann Hum Genet; 2004 Sep; 68(Pt 5):509-14. PubMed ID: 15469427.
    Abstract:
    Acute intermittent porphyria (AIP) is an autosomal dominant disorder of heme biosynthesis, caused by a partial deficiency of hydroxymethylbilane synthase (HMBS). Knowledge of the nature of the HMBS mutations causing AIP in Spanish families is very limited. Here we report a novel 669_698del of the HMBS gene in twenty-two individuals from five independent Spanish AIP families, settled in Murcia (southeastern region of Spain). All mutation carriers shared a common disease associated haplotype indicating an ancestral founder effect. Identification of the 669_698del founder mutation allowed rapid and simple molecular diagnosis of AIP in families from this region in Spain. In addition, 771 + 58C>T in intron 12 on the non-669_698del allele was identified in six AIP patients, which promoted homozygous AIP misdiagnosis.
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