Genetic analysis of patients with primary congenital glaucoma

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dc.authorid0000-0001-8856-0528en_US
dc.authorid0000-0002-3591-721Xen_US
dc.authorid0000-0001-5742-1293en_US
dc.authorid0000-0002--0074-0602en_US
dc.authorid0000-0003-2348-4856en_US
dc.contributor.authorAva, Sedat
dc.contributor.authorDemirtaş, Atılım Armağan
dc.contributor.authorKarahan, Mine
dc.contributor.authorErdem, Seyfettin
dc.contributor.authorOral, Diclehan
dc.contributor.authorKeklikçi, Uğur
dc.date.accessioned2022-06-17T07:08:09Z
dc.date.available2022-06-17T07:08:09Z
dc.date.issued2021en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Göz Hastalıkları Ana Bilim Dalıen_US
dc.descriptionWOS:000630993900003
dc.descriptionPMID: 33745036
dc.description.abstractPurpose To determine the common gene mutation in patients with primary congenital glaucoma (PCG) in the Southeast region of Turkey via genetic analysis and to evaluate whether there were other gene mutations in these patients. Methods A total of 25 patients with PCG were included in this study. We performed sequence analysis including all exons of cytochrome p450 1B1 (CYP1B1), myocilin (MYOC), forkhead box C1 (FOXC1), and paired-like homeodomain 2 (PITX2) genes of the obtained samples. Further, we analyzed the results using the Nextgen analysis program. Results The CYP1B1 gene mutation was detected in 20 (80%) of 25 patients, and FOXC1 gene mutation was detected in one (4%) patient. The mutation site of nine (45%) of the 20 CYP1B1 genes was found in the second exon. The pathogenic variant (p.Gly61Glu) was observed in 12 (60%) patients (in the first and second exons); the mutation type of six (50%) of these patients was homozygous. The mutation site of one patient with FOXC1 gene mutation was found to be in the first exon; its pathogenic variant was p.Met400lle. The mutation type in this gene was observed to be heterozygous. Lastly, there were no mutations in the MYOC, FOXC1, and PITX2 genes in combination with the CYP1B1 gene mutation. Conclusion The most common cause of PCG in our region is the CYP1B1 gene mutation, and the most frequent pathogenic variant is c.182G > A (p.Gly61Glu). We also determined that the CYP1B1 gene mutation was alone and did not occur with other gene mutations (MYOC, FOXC1, and PITX2).en_US
dc.identifier.citationAva, S., Demirtaş, A.A., Karahan, M., Erdem, S., Oral, D. ve Keklikçi, U. (2021). Genetic analysis of patients with primary congenital glaucoma. International Ophthalmology, 41(7), 2565-2574.en_US
dc.identifier.doi10.1007/s10792-021-01815-z
dc.identifier.endpage2574en_US
dc.identifier.issn0165-5701
dc.identifier.issn1573-2630
dc.identifier.issue7en_US
dc.identifier.pmid33745036
dc.identifier.scopus2-s2.0-85102787506
dc.identifier.scopusqualityQ2
dc.identifier.startpage2565en_US
dc.identifier.urihttps://link.springer.com/content/pdf/10.1007/s10792-021-01815-z.pdf
dc.identifier.urihttps://hdl.handle.net/11468/10016
dc.identifier.volume41en_US
dc.identifier.wosWOS:000630993900003
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorAva, Sedat
dc.institutionauthorKarahan, Mine
dc.institutionauthorErdem, Seyfettin
dc.institutionauthorOral, Diclehan
dc.institutionauthorKeklikçi, Uğur
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofInternational Ophthalmology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectPrimary congenital glaucomaen_US
dc.subjectMYOCen_US
dc.subjectFOXC1en_US
dc.subjectPITX2en_US
dc.titleGenetic analysis of patients with primary congenital glaucomaen_US
dc.titleGenetic analysis of patients with primary congenital glaucoma
dc.typeArticleen_US

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