Crystalline gene mutations in Turkish children with congenital cataracts

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dc.authorid0000-0002-3591-721Xen_US
dc.authorid0000-0001-5742-1293en_US
dc.authorid0000-0001-8856-0528en_US
dc.authorid0000-0003-2348-4856en_US
dc.contributor.authorKarahan, Mine
dc.contributor.authorDemirtaş, Atılım Armağan
dc.contributor.authorErdem, Seyfettin
dc.contributor.authorAva, Sedat
dc.contributor.authorTekeş, Selahattin
dc.contributor.authorKeklikçi, Uğur
dc.date.accessioned2022-07-07T06:59:43Z
dc.date.available2022-07-07T06:59:43Z
dc.date.issued2021en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Göz Hastalıkları Ana Bilim Dalıen_US
dc.descriptionWOS:000640755100001
dc.descriptionPMID: 33864186
dc.description.abstractPurpose To detect crystallin gene mutations in Turkish children with congenital cataracts. Methods The present study included 56 children (38 males and 18 females) who were diagnosed with congenital cataract in our ophthalmology clinic. The patients' blood samples were collected and sent to the medical genetics laboratory. The samples were assessed using the sequence analysis method, which covered all exons of CRYAA, CRYAB, CRYBB1, CRYBB2, CRYBB3, CRYGC and CRYGD. Results In total, 56 patients with congenital cataracts were included in the present study. Of these, 68% were male and 32% were female. The age range of the patients was 2 months to 5 years. The mean age of onset was 21.08 +/- 15.15 months. All the patients had bilateral congenital cataracts. The female-to-male ratio was 1:2.1. Mutation analysis was performed to detect possible mutations in CRYAA, CRYAB, CRYBB1, CRYBB2, CRYBB3, CRYGC and CRYGD. Of the four mutations detected, one was novel (c.383A > T in CRYGD) and three were known (c.592C > T in CRYBB2, c.164A > G in CRYGC and c.592C > T in CRYBB2). Two of these three mutations were detected in the same gene (CRYBB2). Crystallin gene mutations were detected in 7% of patients with congenital cataracts (four out of 56 patients) in the present study. Conclusions We think that mutations in crystallin genes are responsible for 7% of congenital cataract cases in our country. The detection of these mutations may help in the molecular diagnosis of congenital cataracts.en_US
dc.identifier.citationKarahan, M., Demirtaş, A.A., Erdem, S., Ava, S., Tekeş, S. ve Keklikci, U. (2021). Crystalline gene mutations in Turkish children with congenital cataracts. International Ophthalmology, 41(8), 2847-2852. http://doi.org/10.1007/s10792-021-01843-9en_US
dc.identifier.doi10.1007/s10792-021-01843-9
dc.identifier.endpage2852en_US
dc.identifier.issn0165-5701
dc.identifier.issn1573-2630
dc.identifier.issue8en_US
dc.identifier.pmid33864186
dc.identifier.scopus2-s2.0-85104322424
dc.identifier.scopusqualityQ2
dc.identifier.startpage2847en_US
dc.identifier.urihttps://link.springer.com/content/pdf/10.1007/s10792-021-01843-9.pdf
dc.identifier.urihttps://hdl.handle.net/11468/10141
dc.identifier.volume41en_US
dc.identifier.wosWOS:000640755100001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorKarahan, Mine
dc.institutionauthorErdem, Seyfettin
dc.institutionauthorAva, Sedat
dc.institutionauthorTekeş, Selahattin
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.subjectCongenital cataracten_US
dc.subjectCrystalline geneen_US
dc.subjectGeneticen_US
dc.titleCrystalline gene mutations in Turkish children with congenital cataractsen_US
dc.titleCrystalline gene mutations in Turkish children with congenital cataracts
dc.typeArticleen_US

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