Analysis of GCDH gene variant in a child with Glutaric aciduria type I / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 39-42, 2022.
Article
in Chinese
| WPRIM
| ID: wpr-928357
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a neonate affected with Glutaric aciduria type I (GA-I).@*METHODS@#Targeted capture and high-throughput sequencing was carried out for the proband and her parents. Candidate variants were verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor compound heterozygous variants of the GCDH gene, namely c.523G>A and c.1190T>C, which was derived from her father and mother, respectively.@*CONCLUSION@#The compound heterozygous variants of the GCDH gene probably underlay the GA-I in the patient.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Brain Diseases, Metabolic
/
Glutaryl-CoA Dehydrogenase
/
High-Throughput Nucleotide Sequencing
/
Amino Acid Metabolism, Inborn Errors
/
Mutation
Limits:
Child
/
Female
/
Humans
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2022
Type:
Article
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