Homozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Case

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dc.authoridGurkan, Hakan/0000-0002-8967-6124
dc.authoridDemir, Selma/0000-0002-0964-5513
dc.authorwosidSANRI, ASLiHAN/ADL-6838-2022
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorSanri, Aslihan
dc.contributor.authorDemir, Selma
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T10:55:17Z
dc.date.available2024-06-12T10:55:17Z
dc.date.issued2023
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntroduction: Brittle cornea syndrome (BCS) is a rare connective tissue disorder with ocular and systemic features. Extreme corneal thinning and fragility are the main hallmarks of BCS. Case Report: A 4-year-old boy presented with recurrent spontaneous corneal perforation. He had blue sclera, corneal leucoma, irregular iris, shallow anterior chamber, corneal astigmatism, and bilateral corneal thinning. He also had several systemic features including hearing loss, skin hyperelasticity, joint hypermobility, scoliosis, and umbilical hernia. A diagnosis of BCS was confirmed with molecular analysis. A homozygous c.17T>G, p.(Val6Gly) variation was identified in the PRDM5 gene. Discussion: p.(Val6Gly) variation in PRDM5 was previously reported in 2 patients with BCS. We also considered PRDM5 c.17T>G, p.(Val6Gly) variation as pathogenic based on the following features: the absence of the variation in population databases, in silico predictions, segregation analysis, and clinical signs of our patient. Extremely thin and brittle corneas lead to corneal perforation spontaneously or after minor trauma. Nearly all patients have lost their vision because of corneal rupture and scars. The key challenge in the management of BCS is the prevention of ocular rupture which relies on early diagnosis. Early diagnosis allows for taking prompt measures to prevent ocular rupture.en_US
dc.identifier.doi10.1159/000524832
dc.identifier.endpage135en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue2en_US
dc.identifier.pmid37064337en_US
dc.identifier.scopus2-s2.0-85144122559en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage129en_US
dc.identifier.urihttps://doi.org/10.1159/000524832
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19370
dc.identifier.volume14en_US
dc.identifier.wosWOS:000885129100001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBrittle Cornea Syndromeen_US
dc.subjectPRDM5en_US
dc.subjectZNF469en_US
dc.subjectCorneal Ruptureen_US
dc.subjectCorneal Fragilityen_US
dc.subjectBlue Scleraen_US
dc.subjectRed Hairen_US
dc.subjectZnf469en_US
dc.subjectMutationsen_US
dc.titleHomozygous Val6Gly Variation in PRDM5 Gene Causing Brittle Cornea Syndrome: A New Turkish Caseen_US
dc.typeArticleen_US

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