A novel G472R mutation in is Turkish family with X-linked Alport syndrome


Topaloglu R., Plant K., Flinter F.

PEDIATRIC NEPHROLOGY, vol.14, no.6, pp.480-481, 2000 (Journal Indexed in SCI) identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 6
  • Publication Date: 2000
  • Doi Number: 10.1007/s004670050797
  • Title of Journal : PEDIATRIC NEPHROLOGY
  • Page Numbers: pp.480-481

Abstract

Alport syndrome (AS) is a hereditary disorder of progressive nephritis. Most cases are X-Linked, but autosomal forms have been reported. The X-linked form is associated with mutations in the COL4A5 gene that encodes the alpha 5 chain of type TV collagen. More than 200 mutations have been reported in X-linked AS. We report a novel 1616 G>A mutation resulting in glycine substitution to arginine at position 472 in a Turkish family with a severely affected man and several variably affected women. This is the first Turkish family in whom the molecular basis of the disease has been reported.