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[Clinical characterization and genetic testing for a patient with creatine deficiency syndrome 1]
1Chaoyang Central Hospital, Chaoyang, Liaoning 122000, China. xvshu12321@163.com.
Objective:
To explore the genetic basis for a child affected with cerebral creatine deficiency syndrome 1 (CCDS1).
Methods:
High-throughput sequencing was carried out to screen pathogenic variant associated with the clinical phenotype of the proband. The candidate variant was verified by Sanger sequencing.
Results:
High-throughput sequencing revealed that the proband has carried heterozygous c.327delG variant of the SLC6A8 gene, which was verified by Sanger sequencing.Neither parent was found to carry the same variant.
Conclusion:
The de novo heterozygous c.327delG variant of the SLC6A8 gene probably underlay the CCDS1 in this child.
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