Article
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Human mutation - 1 Nov 2012
Campeau Philippe M, Lu James T, Dawson Brian C, Fokkema Ivo F A C, Robertson Stephen P, Gibbs Richard A, Lee Brendan H
Abstract excerpt
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) have both recently been shown to be caused by distinct mutations in the histone acetyltransferase KAT6B (a.k.a. MYST4/MORF). All variants are de novo dominant mutations that lead to protein truncation. Mutations leading to GPS occur in the proximal portion of the last exon and lead to the expression of a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.