A case of mental retardation caused by a frameshift variant of SYNGAP1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 57-61, 2023.
Article
in Chinese
| WPRIM
| ID: wpr-970878
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with mental retardation.@*METHODS@#Whole exome sequencing was carried out for the child. Candidate variant was screened based on his clinical features and verified by Sanger sequencing.@*RESULTS@#The child was found to harbor a c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant in the SYNGAP1 gene. Bioinformatic analysis suggested it to be pathogenic. The same variant was not detected in either parent.@*CONCLUSION@#The c.995_1002delAGACAAAA(p.Asp332AlafsTer84) frameshift variant of the SYNGAP1 gene probably underlay the mental retardation in this child. Above finding has expanded the spectrum of SYNGAP1 gene variants and provided a basis for the diagnosis and treatment for this child.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Frameshift Mutation
/
Computational Biology
/
Ras GTPase-Activating Proteins
/
High-Throughput Nucleotide Sequencing
/
Heterozygote
/
Intellectual Disability
/
Mutation
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2023
Type:
Article
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