Premium
An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)
Author(s) -
Salomons Gajja S.,
Bok Levinus A.,
Struys Eduard A.,
Pope Lorna Landegge,
Darmin Patricia S.,
Mills Philippa B.,
Clayton Peter T.,
Willemsen Michèl A.,
Jakobs Cornelis
Publication year - 2007
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21206
Subject(s) - missense mutation , epilepsy , mutation , dehydrogenase , founder effect , genetics , biology , gene , medicine , genotype , enzyme , biochemistry , haplotype , neuroscience
Recently, α‐aminoadipic semialdehyde (α‐AASA) dehydrogenase deficiency was shown to cause pyridoxine‐dependent epilepsy in a considerable number of patients. α‐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 α‐AASA are associated with pathogenic mutations in the α‐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 α‐AASA dehydrogenase deficiency. Ann Neurol 2007