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, M. Addor, A. Al Swaid, J. Amiel, S. Andries, H. ArcherA. Barnicoat, M. Barrow, J. Barwell, G. Baujat, K. Becker, J. Berg, B. Bernhard, M. Bhat, M. Bitner, E. Blair, A. Brady, L. Brueton, S. Cavani, Cecconi, K. Chandler, C. Christensen, A. Clarke, J. Clayton-Smith, T. Cole, L. Colleaux, A. Colley, A. Collins, V. Cormier-Daire, S. Danda, S. Davies, R. Day, D. R. Magali, N. Dennis, A. Dobbie, P. Edery, F. Elmslie, F. Faravelli, H. Firth, R. Fischetto, D. Fitzpatrick, F. Forzano, N. Foulds, J. Franklin, A. Fryer, S. Garcia, C. Gardiner, C. Garrett, B. Gener, R. Gibbons, Y. Gillerot, G. Gillessen-Kaesbach, D. Goudie, M. Grasso, A. Henderson, J. Hirst, S. Hodgson, S. Holder, T. Homfrey, H. Hughes, B. Kerr, A. Kumar, D. Kumar, W. Lam, M. Le Merrer, N. Leonard, J. Liebelt, P. Lunt, S. Lynch, S. Lyonnet, A. Magee, M. Malacarne, S. Mansour, M. McEntagart, S. Majore, S. McKee, C. McKeown, P. Meinecke, K. Metcalfe, D. Milani, S. Mohammad, A. Munnich, A. Murray, A. Nemeth, G. Neri, S. Odent, S. Park, M. Patton, E. Penny, D. Pilz, B. Plecko, C. Pollitt, S. Price, O. Quarrell, A. Raas-Rothschild, N. Rahman*, W. Raith, J. Rankin, L. Raymond, W. Reardon, E. Reid, E. Rosser, D. Ruddy, A. Saggar-Malik, H. Santos, G. Scarano, G. B. Schaeffer, A. Schulze, A. Selicorni, A. Shaw, M. Silengo, S. Smithson, M. Splitt, F. Stewart, H. Stewart, M. Suri, E. Sweeney, K. Tatton-Brown, I. K. Temple, E. Thompson, M. Tischkowitz, J. Tolmie, S. Turkmen, P. Turnpenny, L. Van Maldergem, P. Vasudevan, I. Vaz, D. Waggoner, C. Verellen, G. Viot, E. Wakeling, D. Weaver, K. White, L. Wilson, P. Zack, G. Zampino, A. Zankl, Nazneen Rahman*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)963-965
Number of pages3
JournalNature Genetics
Issue number8
StatePublished - 1 Jun 2007


Dive into the research topics of 'Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth'. Together they form a unique fingerprint.

Cite this