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

Orphanet J Rare Dis. 2021 Jan 21;16(1):41. doi: 10.1186/s13023-021-01684-w.


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: Col VI-CMD; Collagen VI congenital muscular dystrophy; Late-onset risk; PheWAS; Unexpected phenotypes.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Humans
  • Middle Aged
  • Phenotype*