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Abstract #84439 Published in IGR 21-1
Identification of a novel variant in a Hispanic family with early-onset primary open-angle glaucoma with elevated intraocular pressure
Criscione J; Ji W; Jeffries L; McGrath JM; Soloway S; Pusztai L; Lakhani SCold Spring Harbor molecular case studies 2019; 5:
Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide. Most cases are multifactorial in etiology, but some are associated with variants in the myocilin gene, Here, we report the identification of a novel variant, c.1153G>A, in a 24-yr-old female patient with a personal and family history of juvenile/early-onset POAG. Further genetic testing within her family demonstrated that this variant segregates with the POAG phenotype in an autosomal dominant pattern. Identification of this variant in multiple affected relatives provides evidence for its pathogenicity, supporting previous findings linking mutations, in particular in the third exon's olfactomedin domain, to juvenile-onset POAG. This case also emphasizes the potential value of genetic testing in families with histories of eye disorders.
Pediatric Genomics Discovery Program, Department of Pediatrics, Genomics, and Epigenetics Program, Yale University School of Medicine, New Haven, Connecticut 06520, USA.
Full articleClassification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
