What can we learn from common variants associated with unexpected phenotypes in rare genetic diseases?

Abstract

Abstract The purpose of this article is to stimulate discussion about whether a phenome-wide association study is a suitable tool for uncovering late-onset risks in patients with monogenic disorders that are not yet fully recognized because the life expectancy of people with such conditions has only recently extended, and they now reach older ages when they may develop additional complications.

Keywords

• Collagen VI congenital muscular dystrophy
• Col VI-CMD
• PheWAS
• Late-onset risk
• Unexpected phenotypes