title: The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family.
abstract: Succinic semialdehyde dehydrogenase (SSADH) deficiency has predominantly neurological consequences, affecting psychomotor, speech and language development. Recently, two clinical reviews summarized the features of this disease and their relative frequency [Neurology 60 (2003) 1413; Ann. Neurol. 54 (2003) S73]. The molecular genetics of SSADH deficiency is still being explored. We describe the molecular basis of this defect in a Tunisian female child presenting with a mild phenotype. A small scale deletion in exon 10 of the gene led to a frameshift that predicts premature termination of the resulting putative protein. The parents were shown to be heterozygotes for this deletion, supporting its causative role.
authors.affiliation: Department of Biochemistry, Centre Hospitalier Universitaire de Nice, France. bekri.s@chu-nice.fr
authors.forename: S
authors.initials: S
authors.lastname: Bekri
authors.forename: C
authors.initials: C
authors.lastname: Fossoud
authors.forename: G
authors.initials: G
authors.lastname: Plaza
authors.forename: A
authors.initials: A
authors.lastname: Guenne
authors.forename: G S
authors.initials: GS
authors.lastname: Salomons
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: E
authors.initials: E
authors.lastname: Van Obberghen
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D017384:Sequence Deletion; D050644:Succinate-Semialdehyde Dehydrogenase
chemical_list: D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase