Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta.

Autor:	Aliyeva L; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey; Department of Medical Genetics, Atakent Hospital, Acibadem Health Group, Istanbul, Türkiye., Ongen YD; Department of Pediatric Endocrinology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey., Eren E; Department of Pediatric Endocrinology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey., Sarisozen MB; Department of Orthopaedics and Traumatology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey., Alemdar A; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Bursa, Türkiye., Temel SG; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey; Department of Histology and Embryology, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey; Department of Translational Medicine, Health Sciences Institute, Bursa Uludag University, Bursa, Türkiye. Electronic address: sehime@uludag.edu.tr., Sag SO; Department of Medical Genetics, Faculty of Medicine, Bursa Uludag University, Bursa, Turkey. Electronic address: ozemri@uludag.edu.tr.
Jazyk:	angličtina
Zdroj:	The Journal of molecular diagnostics : JMD [J Mol Diagn] 2024 Sep; Vol. 26 (9), pp. 754-769. Date of Electronic Publication: 2024 Jul 20.
DOI:	10.1016/j.jmoldx.2024.05.014
Abstrakt:	Osteogenesis imperfecta (OI) is the most common inherited connective tissue disease of the bone, characterized by recurrent fractures and deformities. In patients displaying the OI phenotype, genotype-phenotype correlation is used to screen multiple genes swiftly, identify new variants, and distinguish between differential diagnoses and mild subtypes. This study evaluated variants identified through next-generation sequencing in 58 patients with clinical characteristics indicative of OI. The cohort included 18 adults, 37 children, and 3 fetuses. Clinical classification revealed 25 patients as OI type I, three patients as OI type II, 18 as OI type III, and 10 as OI type IV. Fifteen variants in COL1A1 were detected in 19 patients, 9 variants in COL1A2 (n = 19), 5 variants in LEPRE1/P3H1 (n = 7), 3 variants in FKBP10 (n = 4), 3 variants in SERPINH1 (n = 2), 1 variant in IFITM5 (n = 1), and 1 variant in PLS3 (n = 1). In total, 37 variants (18 pathogenic, 14 likely pathogenic, and 5 variants of uncertain significance), including 16 novel variants, were identified in 43 (37 probands, 6 family members) of the 58 patients analyzed. This study highlights the efficacy of panel testing in the molecular diagnosis of OI, the significance of the next-generation sequencing technique, and the importance of genotype-phenotype correlation. Competing Interests: Disclosure Statement None declared. (Copyright © 2024 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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