Diagnostic Utility in Next-Generation Sequencing by Implicating CNV Analysis in Eleven Patients with Peters Plus Syndrome: A Single-Center Experience
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.
Authors
- Esra Işık (ORCID: https://orcid.org/0000-0003-0657-2408)
- Akçahan Akalın (ORCID: https://orcid.org/0000-0001-9770-284X)
- Tahir Atık (ORCID: https://orcid.org/0000-0002-1142-3872)
- Veysel Öz
- Tiong Yang Tan (ORCID: https://orcid.org/0000-0001-8455-7778)
- Özgür Çoğulu (ORCID: https://orcid.org/0000-0002-9037-5599)
- Enise Avcı Durmuşalioğlu (ORCID: https://orcid.org/0000-0002-0582-8881)
- Leyla Hazar (ORCID: https://orcid.org/0000-0002-8206-781X)
- Edip Ünal (ORCID: https://orcid.org/0000-0002-9809-0977)
- Ruken Yıldırım (ORCID: https://orcid.org/0000-0002-9558-3856)
- Yusuf Hakan Dogan (ORCID: https://orcid.org/0000-0003-2571-1872)
- Şervan Özkalkak
Institutions
- Dicle University (TR)
- Children’s Minnesota - St. Paul Hospital (US)
- Ege University (TR)
- Diyarbakır Askeri Hastanesi (TR)
- Pediatrics and Genetics (US)
Publication Details
- Journal
- Journal of Clinical Research in Pediatric Endocrinology
- Published
- 2025-04-11
- DOI
- https://doi.org/10.4274/jcrpe.galenos.2025.2025-1-18
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 0.00