Mutation Analysis in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency: A Compound Heterozygote with 103–121del and 1460T > A of the ALDH5A1 Gene
| العنوان: | Mutation Analysis in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency: A Compound Heterozygote with 103–121del and 1460T > A of the ALDH5A1 Gene |
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| المؤلفون: | Mitsuharu Kajita, Tsutomu Aoshima, K.Kazuyoshi Watanabe, Masahiko Kimura, Yoshiko Ishiguro, Seiji Yamaguchi, Yoshitaka Sekido, Ikuya Tsuge, Toshimitsu Niwa, Kaoru Shimokata |
| المصدر: | Human Heredity. 53:42-44 |
| بيانات النشر: | S. Karger AG, 2002. |
| سنة النشر: | 2002 |
| مصطلحات موضوعية: | Succinic semialdehyde dehydrogenase deficiency, Genetics, Mutation, Biology, Compound heterozygosity, medicine.disease_cause, medicine.disease, Molecular biology, Frameshift mutation, Succinate-semialdehyde dehydrogenase, genomic DNA, medicine, Missense mutation, Gene, Genetics (clinical) |
| الوصف: | 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. |
| تدمد: | 1423-0062 0001-5652 |
| DOI: | 10.1159/000048603 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::2bbaec253a7b4d50e1cce595bdcb48d8 https://doi.org/10.1159/000048603 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi...........2bbaec253a7b4d50e1cce595bdcb48d8 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14230062 00015652 |
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| DOI: | 10.1159/000048603 |