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

ABSTRACT:

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 (B3GLCT). To date, homozygous or compound heterozygous splicing, truncating, missense variants, and whole gene deletions have been reported in the B3GLCT gene. Our aim was to investigate the role of small copy number variations (CNVs) in this condition alongside the clinical features of the patients.

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 del

SUBMITTER: Akalın A 

PROVIDER: S-EPMC12699094 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature