2. Academic Validation
  3. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

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

  • Nat Genet. 2007 Aug;39(8):963-5. doi: 10.1038/ng2083.
Jenny Douglas 1,  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,  Childhood Overgrowth Collaboration,  Nazneen Rahman
Affiliations

Affiliation

  • 1 Section of Cancer Genetics, Institute of Cancer Research, Sutton, Surrey SM2 5NG, UK.
PMID: 17632510 DOI: 10.1038/ng2083
Abstract

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. These data identify RNF135 as causative of a new overgrowth syndrome and demonstrate that RNF135 haploinsufficiency contributes to the phenotype of NF1 microdeletion cases.

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