Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria

Summary 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 o...

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Bibliographic Details
Published in:Annals of human genetics 2004-09, Vol.68 (5), p.509-514
Main Authors: Guillén‐Navarro, E., Carbonell, P., Glover, G., Sánchez‐Solís, M., Fernández‐Barreiro, A.
Format: Article
Language:English
Subjects:
Acute Intermittent Porphyria
Adult
Aged
AIP
DNA Mutational Analysis
Female
Founder Effect
Founder mutation
Haplotypes
Heme
Hereditary diseases
HMBS
Humans
Hydroxymethylbilane synthase
Hydroxymethylbilane Synthase - genetics
Introns
Male
Middle Aged
Mutation
PBGD
Pedigree
Polymorphism
Polymorphism, Genetic
Porphobilinogen deaminase
Porphyria
Porphyria, Acute Intermittent - genetics
Spain - epidemiology
Spanish AIP patients
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Summary:Summary 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.
ISSN:0003-4800
1469-1809
DOI:10.1046/j.1529-8817.2003.00114.x