Mutation Analysis in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency: A Compound Heterozygote with 103–121del and 1460T

Vol. 53, No. 1, 2002

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Mutation Report

Mutation Analysis in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency: A Compound Heterozygote with 103-121del and 1460T > A of the ALDH5A1 Gene
Tsutomu Aoshima^a, Mitsuharu Kajita^a, Yoshitaka Sekido^b, Yoshiko Ishiguro^a, Ikuya Tsuge^a, Masahiko Kimura^c, Seiji Yamaguchi^c, K.Kazuyoshi Watanabe^a, Kaoru Shimokata^b, Toshimitsu Niwa^b

^aDepartment of Pediatrics, Nagoya University School of Medicine, Nagoya,
^bDepartment of Clinical Preventive Medicine, Nagoya University Hospital, Nagoya, and
^cDepartment of Pediatrics, Shimane Medical College, Shimane, Japan

Address of Corresponding Author

Hum Hered 2002;53:42-44 (DOI: 10.1159/000048603)

Key Words

Mutation
Succinic semialdehyde dehydrogenase deficiency
4-Hydroxybutyric aciduria
4-Aminobutyric acid

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.

Author Contacts

Toshimitsu Niwa
Department of Clinical Preventive Medicine
Nagoya University Hospital
65 Tsuruma-cho, Showa-ku, Nagoya 466-8560 (Japan)
Tel. +81 52 744 1980, Fax +81 52 744 1954, E-Mail tniwa@med.nagoya-u.ac.jp

Article Information

Received: Received: August 4, 2001
Revision received: August 29, 2001
Number of Print Pages : 3
Number of Figures : 1, Number of Tables : 0, Number of References : 3

Medline Abstract (ID 11901270)

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