Related Experiment Video
Updated: Jul 12, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1)
Gajja S Salomons1, Levinus A Bok, Eduard A Struys
1Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands. g.salomons@vumc.nl
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.
Related Concept Videos
Mutations
Mutations
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Mutations
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Point and Frameshift Mutations
Epistasis Analysis
