Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation
Makaleler > Tam Makale · 2024
Yazarlar: Samim ÖZEN, Ruhsar Damla GÖKŞEN, Ferda EVİN, Esra IŞIK, HÜSEYİN ONAY, BİLÇAĞ AKGÜN, AYSUN ATA, Tahir ATİK, FÜSUN DÜZCAN, Feriştah Ferda ÖZKINAY, Şükran DARCAN, Muhsin Özgür ÇOĞULU
Journal of Clinical Research in Pediatric Endocrinology, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2024, cilt 16, ss 431-442
DOI: 10.4274/jcrpe.galenos.2024.2022-12-8
Özet
Objective: Osteogenesis imperfecta (OI) consists of a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. The aim was to investigate the molecular genetic etiology and determine the relationship between genotype and phenotype in OI patients using targeted next-generation sequencing (NGS). Methods: A targeted NGS analysis panel (Illumina TruSight One) containing genes involved in collagen/bone synthesis was performed on the Illumina Nextseq550 platform in patients with a confirmed diagnosis of OI. Results: ). Nine (23.6%) of the variants detected by NGS panel had not previously been reported and were also classified as pathogenic based on American College of Medical Genetics guidelines pathogenity scores. In ten (21.7%) families, a disease-related variant was not found in any of the 13 OI genes on the panel. Conclusion: Genetic etiology was found in 38 (82.6%) of 46 families by targeted NGS analysis. Furthermore, nine new variants were identified in known OI genes which were classified as pathogenic by standard guidelines.