A Pilot Study of Identification Genetic Background of Craniosynostosis Cases

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dc.authoridKalkan, Rasime/0000-0002-6095-7352
dc.authoridatli, emine ikbal/0000-0001-9003-1449;
dc.authorwosidDemir, Selma/A-1500-2018
dc.authorwosidKalkan, Rasime/X-4808-2019
dc.authorwosidatli, emine ikbal/AAN-5060-2020
dc.authorwosidATLI, Engin/AAY-4641-2021
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorAtli, Engin
dc.contributor.authorDemir, Selma
dc.contributor.authorMail, Cisem
dc.contributor.authorEker, Damla
dc.contributor.authorKalkan, Rasime
dc.date.accessioned2024-06-12T10:50:21Z
dc.date.available2024-06-12T10:50:21Z
dc.date.issued2021
dc.departmentTrakya Üniversitesien_US
dc.description.abstractThe early fusion of the cranial sutures was described as a craniosynostosis. The early diagnosis and management of craniosynostosis is very important. Environmental factors and genetic abnormalities plays a key role during the development of craniosynostosis. Syndromic craniosynostosis cases are related with autosomal dominant disorders but nearly half of the affected cases carry a new mutation. In this study, in order to identify the genetic etiology of craniosynostosis the authors analyzed 20 craniosynostosis patients by using conventional karyotype, aCGH, sanger sequencing, next generation sequencing (NGS) and Multiplex ligation-dependent probe amplification (MLPA) techniques. The authors identified mutations on FGFR2 and FGFR3 genes which were associated with Muenke syndrome, Crouzon syndrome and skeletal dysplasia syndromes. NGS applied all of the cases and 7 clinical variations in 5 different gene were detected in %20 of cases. In addition to these abnormalities; del(11)(q14.1q22.2), del(17)(q21.31), dup(22)(q13.31) and t(2;16)(q37;p13) have been identified in our cohort which are not previously detected in craniosynostosis cases. Our study demonstrates the importance of detailed genetic analysis for the diagnosis, progression and management of the craniosynostosis.en_US
dc.identifier.doi10.1097/SCS.0000000000007285
dc.identifier.endpage1062en_US
dc.identifier.issn1049-2275
dc.identifier.issn1536-3732
dc.identifier.issue3en_US
dc.identifier.pmid33252532en_US
dc.identifier.scopus2-s2.0-85121958093en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage1059en_US
dc.identifier.urihttps://doi.org/10.1097/SCS.0000000000007285
dc.identifier.urihttps://hdl.handle.net/20.500.14551/17975
dc.identifier.volume32en_US
dc.identifier.wosWOS:000662282900099en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.relation.ispartofJournal Of Craniofacial Surgeryen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectAcghen_US
dc.subjectCraniosynostosisen_US
dc.subjectMultiplex Ligation-Dependent Probe Amplificationen_US
dc.subjectNext Generation Sequencingen_US
dc.subjectMutationsen_US
dc.subjectPopulationen_US
dc.subjectOriginen_US
dc.titleA Pilot Study of Identification Genetic Background of Craniosynostosis Casesen_US
dc.typeArticleen_US

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