P710: Diagnostic utility of genome and transcriptome sequencing in identifying PIGL variants associated with atypical CHIME syndrome
Abstract
These findings underscore the pronounced phenotypic variability of CHIME syndrome, which may complicate clinical diagnosis; however, they also highlight that powerful molecular diagnostic approaches, such as comprehensive genome sequencing complemented by transcriptome analysis, can overcome these challenges by accurately detecting complex variant combinations like missense changes coupled with small intragenic deletions. As shown in this patient, such deletions often fall below the detection limits of exome-based CNV callers.
Fields of Study & Subjects
Genomics and Rare Diseases
Immunodeficiency and Autoimmune Disorders
Genomic variations and chromosomal abnormalities
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104199–104199
- Publication date
- 1 January 2026
- Language
- EN