title: Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
abstract: We saw a 17-month-old boy with moderate psychomotor retardation, and enzymatically diagnosed succinic semialdehyde dehydrogenase (SSADH) deficiency. After extracting mRNA and genomic DNA from his cultured lymphoblasts, we analyzed the entire coding region of the ALDH5A1 gene using reverse transcription-polymerase chain reaction (RT-PCR) and genomic PCR followed by sequencing. He was demonstrated to be a compound heterozygote with two novel mutations (103-121 del and 1460T>A). The former leads to a frameshift and premature termination, and the latter is a missense mutation, V487E. Both mutations were also detected in the genomic DNA. Taken together with previous mutation reports, genetic heterogeneity was suspected for SSADH deficiency, and may account for the wide range of its phenotype.
authors.affiliation: Department of Pediatrics, Nagoya University School of Medicine, Nagoya, Japan.
authors.forename: Tsutomu
authors.initials: T
authors.lastname: Aoshima
authors.forename: Mitsuharu
authors.initials: M
authors.lastname: Kajita
authors.forename: Yoshitaka
authors.initials: Y
authors.lastname: Sekido
authors.forename: Yoshiko
authors.initials: Y
authors.lastname: Ishiguro
authors.forename: Ikuya
authors.initials: I
authors.lastname: Tsuge
authors.forename: Masahiko
authors.initials: M
authors.lastname: Kimura
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Kazuyoshi
authors.initials: K
authors.lastname: Watanabe
authors.forename: Kaoru
authors.initials: K
authors.lastname: Shimokata
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Niwa
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000172:deficiency* / Q000235:genetics; D018755:GABA Agonists / Q000378:metabolism; D006801:Humans; D006885:Hydroxybutyrates / Q000378:metabolism; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D017384:Sequence Deletion; D050644:Succinate-Semialdehyde Dehydrogenase
chemical_list: D018755:GABA Agonists; D006885:Hydroxybutyrates; C111420:4-hydroxybutyric acid; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase