Homozygous Val6Gly Variation in < b > < i > PRDM5 < /i > < /b > Gene Causing Brittle Cornea Syndrome: A New Turkish Case

Discussion: p.(Val6Gly) variation inPRDM5 was previously reported in 2 patients with BCS. We also consideredPRDM5 c.17T#x3e;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.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research