title: An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
abstract: Recently, alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was shown to cause pyridoxine-dependent epilepsy in a considerable number of patients. alpha-AASA dehydrogenase deficiency is an autosomal recessive disorder characterized by a neonatal-onset epileptic encephalopathy in which seizures are resistant to antiepileptic drugs but respond immediately to the administration of pyridoxine (OMIM 266100). Increased plasma and urinary levels of alpha-AASA are associated with pathogenic mutations in the alpha-AASA dehydrogenase (ALDH7A1/antiquitin) gene. Here, we report an intriguing "silent" mutation in ALDH7A1, a novel missense mutation and a founder mutation in a Dutch cohort (10 patients) with alpha-AASA dehydrogenase deficiency.
authors.affiliation: Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands. g.salomons@vumc.nl
authors.forename: Gajja S
authors.initials: GS
authors.lastname: Salomons
authors.forename: Levinus A
authors.initials: LA
authors.lastname: Bok
authors.forename: Eduard A
authors.initials: EA
authors.lastname: Struys
authors.forename: Lorna Landegge
authors.initials: LL
authors.lastname: Pope
authors.forename: Patricia S
authors.initials: PS
authors.lastname: Darmin
authors.forename: Philippa B
authors.initials: PB
authors.lastname: Mills
authors.forename: Peter T
authors.initials: PT
authors.lastname: Clayton
authors.forename: Michèl A
authors.initials: MA
authors.lastname: Willemsen
authors.forename: Cornelis
authors.initials: C
authors.lastname: Jakobs
mesh_terms: D000328:Adult; D000444:Aldehyde Dehydrogenase / Q000235:genetics*; D004827:Epilepsy / Q000235:genetics*; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase