Access

Brief Communication

Nature Genetics 39, 963–965 (1 August 2007) | doi:10.1038/ng2083

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

Jenny Douglas , Deirdre Cilliers , Kim Coleman , Katrina Tatton-Brown , Karen Barker , Brigitte Bernhard , John Burn , Susan Huson , Dragana Josifova , Didier Lacombe , Mohsin Malik , Sahar Mansour , Evan Reid , Valerie Cormier-Daire , Trevor Cole , The Childhood Overgrowth Collaboration & Nazneen Rahman

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 disability, dysmorphic features and variable additional features.