An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
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.
Salomons
Gajja S
GS
Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands. g.salomons@vumc.nl
Bok
Levinus A
LA
Struys
Eduard A
EA
Pope
Lorna Landegge
LL
Darmin
Patricia S
PS
Mills
Philippa B
PB
Clayton
Peter T
PT
Willemsen
Michèl A
MA
Jakobs
Cornelis
C
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
C089507:ALDH7A1 protein, human; D000444:Aldehyde Dehydrogenase