Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey

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dc.authoridatli, emine ikbal/0000-0001-9003-1449
dc.authoridCelik, Mehmet/0000-0001-7364-370X
dc.authoridTemel, Sehime G/0000-0002-9802-0880
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidyildirim, ruken/G-8137-2018
dc.authorwosidCelik, Mehmet/AAA-8773-2021
dc.authorwosidSANRI, ASLiHAN/ADL-6838-2022
dc.authorwosidSağ, Şebnem Özemri/AAH-8355-2021
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorDemir, Selma
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorSanri, Aslihan
dc.contributor.authorYildirim, Ruken
dc.contributor.authorTutunculer, Filiz
dc.contributor.authorCelik, Mehmet
dc.date.accessioned2024-06-12T11:11:46Z
dc.date.available2024-06-12T11:11:46Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjective: Osteogenesis imperfecta (OI) includes a group of disorders characterized by susceptibility to bone fractures with different severities. The increasing number of genes that may underlie the disorder, along with the broad phenotypic spectrum that overlaps with other skeletal diseases, provided a compelling case for the use of high-throughput sequencing (HTS) technology as an aid to OI diagnoses. The aim of this analysis was to present the data from our 5-year targeted HTS results, that includes the reporting of 9 novel and 24 known mutations, found in OI patients, from 5 different regions of Turkey. Materials and Methods: We performed a retrospective cross-sectional study, reporting the HTS results of 43 patients (23 female and 20 male; mean age: 9.5 years), directed to our center with a suspicion of OI between February 2015 and May 2020. Genetic analyses were also performed for 24 asymptomatic parents to aid the segregation analyses. We utilized an HTS panel targeting the coding regions of 57 genes associated with a reduction, increase, or abnormal development of bone mineralization. In addition, we sequenced the entire coding region of the IFITM5 gene through HTS. Results: Thirty-nine patients had at least one pathogenic/likely pathogenic variation (90.69%) in the COL1A1 (56.41%), COL1A2 (20.51%), FKBP10 (7.7%), P3H1 (5.13%), IFITM5 (5.13%), CTRAP (2.56%), or TMEM38B (2.56%) genes. Nine of the determined pathogenic/likely pathogenic variations were novel. The recurrent pathogenic mutations were c.1081C>T (p.Arg361Ter) (3/43), c.1405C>T (p.Arg469Ter) (2/43), and c.3749del (p.Gly1250AlafsTer81) in COL1A1 gene, along with c.-14C>T variation in the 5'UTR of the IFITM5 gene (2/43) and the c.890_897dup variation in the FKBP10 gene (2/43). Three out of 43 patients were carrying at least one additional variant of unknown significance, highlighting the importance of a multigene panel approach and segregation analyses. Conclusion: We suggest that a targeted HTS panel is a feasible tool for genetic diagnosis of OI in patients.en_US
dc.identifier.doi10.1089/gtmb.2020.0169
dc.identifier.endpage67en_US
dc.identifier.issn1945-0265
dc.identifier.issn1945-0257
dc.identifier.issue1en_US
dc.identifier.pmid33470886en_US
dc.identifier.scopus2-s2.0-85099865620en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage59en_US
dc.identifier.urihttps://doi.org/10.1089/gtmb.2020.0169
dc.identifier.urihttps://hdl.handle.net/20.500.14551/22918
dc.identifier.volume25en_US
dc.identifier.wosWOS:000609017200008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherMary Ann Liebert, Incen_US
dc.relation.ispartofGenetic Testing And Molecular Biomarkersen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectOsteogenesis Imperfectaen_US
dc.subjectNovel Mutationen_US
dc.subjectHTSen_US
dc.subjectMutationen_US
dc.subjectVariantsen_US
dc.subjectGeneen_US
dc.subjectGenomicsen_US
dc.subjectDatabaseen_US
dc.subjectGlycineen_US
dc.subject5'-Utren_US
dc.subjectCol1a1en_US
dc.titleTargeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkeyen_US
dc.typeArticleen_US

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