title: De-novo mutation and sporadic presentation of acute intermittent porphyria.
abstract: Acute intermittent porphyria (AIP) is a low-penetrant autosomal dominant disorder characterised by life-threatening neurovisceral attacks, often precipitated by drugs. Prognosis is improved by presymptomatic diagnosis and counselling. We found that 29 of 103 (28%) unrelated patients presented as sporadic cases. One patient had a de-novo mutation. The same mutation has arisen de novo at least three times in 12% of British AIP families. About 3% (95% CI 1-8%) of all AIP index cases may have de-novo mutations. These findings emphasise the high frequency of sporadic presentation of AIP and indicate the limitations of presymptomatic diagnosis as an aid to management.
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017118:Porphyria, Acute Intermittent / Q000235:genetics*; D011379:Prognosis
chemical_list: D011163:Hydroxymethylbilane Synthase