Analysis of gene variant in an infant with succinic semialdehyde dehydrogenase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 216-221, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-928393
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Developmental Disabilities
/
Succinate-Semialdehyde Dehydrogenase
/
Amino Acid Metabolism, Inborn Errors
/
Mutation
Limits:
Child
/
Humans
/
Infant
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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