Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency.
10.3760/cma.j.cn511374-20201120-00818
- VernacularTitle:一例琥珀酸半醛脱氢酶缺陷症患儿的基因变异分析
- Author:
Dandan YAN
1
;
Xiaowei XU
;
Xuetao WANG
;
Xinjie ZHANG
;
Xiufang ZHI
;
Hong WANG
;
Yuqing ZHANG
;
Jianbo SHU
Author Information
1. Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin 300134, China. shjb1981@sina.com.
- Publication Type:Journal Article
- MeSH:
Amino Acid Metabolism, Inborn Errors/genetics*;
Child;
Developmental Disabilities;
Humans;
Infant;
Mutation;
Succinate-Semialdehyde Dehydrogenase/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(2):216-221
- CountryChina
- Language:Chinese
-
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.
