Clinical characterization and genetic testing for a patient with creatine deficiency syndrome 1

Abstract

To explore the genetic basis for a child affected with cerebral creatine deficiency syndrome 1 (CCDS1). 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. 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. The de novo heterozygous c.327delG variant of the SLC6A8 gene probably underlay the CCDS1 in this child.