Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.

ABSTRACT: Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical and genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD). As part of our continued efforts to define genetic causes of macular degeneration, we performed whole exome sequencing in four individuals of a two-generation family with autosomal dominant maculopathy and identified a rare variant p.Glu1144Lys in Fibrillin 2 (FBN2), a glycoprotein of the elastin-rich extracellular matrix (ECM). Sanger sequencing validated the segregation of this variant in the complete pedigree, including two additional affected and one unaffected individual. Sequencing of 192 maculopathy patients revealed additio

SUBMITTER: Ratnapriya R 

PROVIDER: S-EPMC4189898 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature