Article
Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
Nature genetics - 1 Aug 2007
Douglas Jenny, Cilliers Deirdre, Coleman Kim, Tatton-Brown Katrina, Barker Karen, Bernhard Brigitte, Burn John, Huson Susan, Josifova Dragana, Lacombe Didier, Malik Mohsin, Mansour Sahar, Reid Evan, Cormier-Daire Valerie, Cole Trevor, Rahman Nazneen
Abstract excerpt
17q11 microdeletions that encompass NF1 cause 5%-10% of cases of neurofibromatosis type 1, and individuals with microdeletions are typically taller than individuals with intragenic NF1 mutations, suggesting that deletion of a neighboring gene might promote human growth. We identified mutations in RNF135, which is within the NF1 microdeletion region, in six families characterized by overgrowth, learning...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.