Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene

Human Heredity
Tsutomu AoshimaToshimitsu Niwa

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.

Citations

Jun 28, 2003·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Masahiko KimuraSeiji Yamaguchi
Dec 21, 2004·European Journal of Biochemistry·Byung Ryong LeeSoo Young Choi
Mar 21, 2009·The EMBO Journal·Yeon-Gil KimKyung-Jin Kim
Sep 3, 2004·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Neil Gordon
Jan 6, 2015·Developmental Medicine and Child Neurology·Phillip L PearlK Michael Gibson
Dec 10, 2021·Journal of Child Neurology·Kirt MartinSarah H Elsea

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