The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family.
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.
Bekri
S
S
Department of Biochemistry, Centre Hospitalier Universitaire de Nice, France. bekri.s@chu-nice.fr
Fossoud
C
C
Plaza
G
G
Guenne
A
A
Salomons
G S
GS
Jakobs
C
C
Van Obberghen
E
E
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
D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase