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.
Original language | English |
---|---|
Journal | Nature Genetics |
Volume | 39 |
Issue number | 8 |
Pages (from-to) | 963-965 |
Number of pages | 3 |
ISSN | 1061-4036 |
DOIs | |
Publication status | Published - 01.06.2007 |
Research Areas and Centers
- Research Area: Medical Genetics
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In: Nature Genetics, Vol. 39, No. 8, 01.06.2007, p. 963-965.
Research output: Journal Articles › Journal articles › Research › peer-review
TY - JOUR
T1 - Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth
AU - Douglas, Jenny
AU - Cilliers, Deirdre
AU - Coleman, Kim
AU - Tatton-Brown, Katrina
AU - Barker, Karen
AU - Bernhard, Brigitte
AU - Burn, John
AU - Huson, Susan
AU - Josifova, Dragana
AU - Lacombe, Didier
AU - Malik, Mohsin
AU - Mansour, S.
AU - Reid, Evan
AU - Cormier-Daire, V.
AU - Cole, T.
AU - Addor, M.
AU - Al Swaid, A.
AU - Amiel, J.
AU - Andries, S.
AU - Archer, H.
AU - Barnicoat, A.
AU - Barrow, M.
AU - Barwell, J.
AU - Baujat, G.
AU - Becker, K.
AU - Berg, J.
AU - Bernhard, B.
AU - Bhat, M.
AU - Bitner, M.
AU - Blair, E.
AU - Brady, A.
AU - Brueton, L.
AU - Cavani, S.
AU - Cecconi,
AU - Chandler, K.
AU - Christensen, C.
AU - Clarke, A.
AU - Clayton-Smith, J.
AU - Cole, T.
AU - Colleaux, L.
AU - Colley, A.
AU - Collins, A.
AU - Cormier-Daire, V.
AU - Danda, S.
AU - Davies, S.
AU - Day, R.
AU - Magali, D. R.
AU - Dennis, N.
AU - Dobbie, A.
AU - Edery, P.
AU - Elmslie, F.
AU - Faravelli, F.
AU - Firth, H.
AU - Fischetto, R.
AU - Fitzpatrick, D.
AU - Forzano, F.
AU - Foulds, N.
AU - Franklin, J.
AU - Fryer, A.
AU - Garcia, S.
AU - Gardiner, C.
AU - Garrett, C.
AU - Gener, B.
AU - Gibbons, R.
AU - Gillerot, Y.
AU - Gillessen-Kaesbach, G.
AU - Goudie, D.
AU - Grasso, M.
AU - Henderson, A.
AU - Hirst, J.
AU - Hodgson, S.
AU - Holder, S.
AU - Homfrey, T.
AU - Hughes, H.
AU - Kerr, B.
AU - Kumar, A.
AU - Kumar, D.
AU - Lam, W.
AU - Le Merrer, M.
AU - Leonard, N.
AU - Liebelt, J.
AU - Lunt, P.
AU - Lynch, S.
AU - Lyonnet, S.
AU - Magee, A.
AU - Malacarne, M.
AU - Mansour, S.
AU - McEntagart, M.
AU - Majore, S.
AU - McKee, S.
AU - McKeown, C.
AU - Meinecke, P.
AU - Metcalfe, K.
AU - Milani, D.
AU - Mohammad, S.
AU - Munnich, A.
AU - Murray, A.
AU - Nemeth, A.
AU - Neri, G.
AU - Odent, S.
AU - Park, S.
AU - Patton, M.
AU - Penny, E.
AU - Pilz, D.
AU - Plecko, B.
AU - Pollitt, C.
AU - Price, S.
AU - Quarrell, O.
AU - Raas-Rothschild, A.
AU - Rahman, N.
AU - Raith, W.
AU - Rankin, J.
AU - Raymond, L.
AU - Reardon, W.
AU - Reid, E.
AU - Rosser, E.
AU - Ruddy, D.
AU - Saggar-Malik, A.
AU - Santos, H.
AU - Scarano, G.
AU - Schaeffer, G. B.
AU - Schulze, A.
AU - Selicorni, A.
AU - Shaw, A.
AU - Silengo, M.
AU - Smithson, S.
AU - Splitt, M.
AU - Stewart, F.
AU - Stewart, H.
AU - Suri, M.
AU - Sweeney, E.
AU - Tatton-Brown, K.
AU - Temple, I. K.
AU - Thompson, E.
AU - Tischkowitz, M.
AU - Tolmie, J.
AU - Turkmen, S.
AU - Turnpenny, P.
AU - Van Maldergem, L.
AU - Vasudevan, P.
AU - Vaz, I.
AU - Waggoner, D.
AU - Verellen, C.
AU - Viot, G.
AU - Wakeling, E.
AU - Weaver, D.
AU - White, K.
AU - Wilson, L.
AU - Zack, P.
AU - Zampino, G.
AU - Zankl, A.
AU - Rahman, Nazneen
N1 - Funding Information: We thank the participating families who were recruited to the study by the Childhood Overgrowth Collaboration, which includes the following contributors: M. Addor, A. Al Swaid, J. Amiel, S. Andries, H. Archer, A. 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, M. 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, D. Lacombe, 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. We are grateful to S. Huson and L. Side for providing photographs of individuals with NF1 microdeletions. We are very grateful to J. Shipley and A. Mcintyre for providing DNA from Chinese individuals without overgrowth. The research was supported by the Child Growth Foundation, the Institute of Cancer Research and the Medical Research Council (UK).
PY - 2007/6/1
Y1 - 2007/6/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=34547533520&partnerID=8YFLogxK
U2 - 10.1038/ng2083
DO - 10.1038/ng2083
M3 - Journal articles
C2 - 17632510
AN - SCOPUS:34547533520
SN - 1061-4036
VL - 39
SP - 963
EP - 965
JO - Nature Genetics
JF - Nature Genetics
IS - 8
ER -