1. [Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency].
- Author
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Yan D, Xu X, Wang X, Zhang X, Zhi X, Wang H, Zhang Y, and Shu J
- Subjects
- Child, Developmental Disabilities, Humans, Infant, Mutation, Amino Acid Metabolism, Inborn Errors genetics, Succinate-Semialdehyde Dehydrogenase deficiency, Succinate-Semialdehyde Dehydrogenase genetics
- Abstract
Objective: To explore the genetic basis for a child with succinate semialdehyde dehydrogenase deficiency., Methods: Peripheral blood samples of the proband and his parents were collected and subjected to Sanger sequencing. High-throughput sequencing was used to verify the gene variants. Bioinformatic software was used to analyze the pathogenicity of the variant sites., Results: Sanger sequencing showed that the proband carried a homozygous c.1529C>T (p.S510F) variant of the ALDH5A1 gene, for which his mother was a carrier. The same variant was not detected in his father. However, high-throughput sequencing revealed that the child and his father both had a deletion of ALDH5A1 gene fragment (chr6: 24 403 265-24 566 986)., Conclusion: The c.1529C>T variant of the ALDH5A1 gene and deletion of ALDH5A1 gene fragment probably underlay the disease in the child. High-throughput sequencing can detect site variation as well as deletion of gene fragment, which has enabled genetic diagnosis and counseling for the family.
- Published
- 2022
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