Diagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience

Objective: Peters-Plus syndrome (PTRPLS) is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in the ß 1,3-glucosyltransferase gene ( Methods: The study included eleven patients from six consanguineous families originating from the same village. Clinical exome sequencing-based CNV analysis was employed across all probands to ascertain the genetic background. Results: Using GATK-gCNV, we identified a homozygous deletion on chromosome 13q12.3, encompassing the fifteenth exon of the Conclusion: Our findings highlight an important role for Next-Generation Sequencing (NGS)-based CNV analysis in improving the diagnostic accuracy in PTRPLS. CNVs represent a significant form of genomic variation and should be systematically considered in genetically unresolved Mendelian disorders. Integrating CNV detection algorithms into routine NGS diagnostic workflows has the potential to enhance the identification of pathogenic changes, ultimately facilitating a more comprehensive molecular diagnosis for affected individuals.