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, [No Value] 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, Nazneen Rahman

Research output: Contribution to journalArticle

61 Citations (Scopus)

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 languageEnglish
Pages (from-to)963-965
Number of pages3
JournalNature Genetics
Volume39
Issue number8
DOIs
Publication statusPublished - Aug 2007

Fingerprint

Haploinsufficiency
Neurofibromatosis 1
Sequence Deletion
Learning Disorders
Phenotype
Mutation
Growth
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Douglas, J., Cilliers, D., Coleman, K., Tatton-Brown, K., Barker, K., Bernhard, B., ... Rahman, N. (2007). Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nature Genetics, 39(8), 963-965. https://doi.org/10.1038/ng2083

Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. / 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; Addor, M.; Al Swaid, A.; Amiel, J.; Andries, S.; Archer, H.; Barnicoat, A.; Barrow, M.; Barwell, J.; Baujat, G.; Becker, K.; Berg, J.; Bernhard, B.; Bhat, M.; Bitner, M.; Blair, E.; Brady, A.; Brueton, L.; Cavani, S.; Cecconi, [No Value]; Chandler, K.; Christensen, C.; Clarke, A.; Clayton-Smith, J.; Cole, T.; Colleaux, L.; Colley, A.; Collins, A.; Cormier-Daire, V.; Danda, S.; Davies, S.; Day, R.; Magali, D. R.; Dennis, N.; Dobbie, A.; Edery, P.; Elmslie, F.; Faravelli, F.; Firth, H.; Fischetto, R.; Fitzpatrick, D.; Forzano, F.; Foulds, N.; Franklin, J.; Fryer, A.; Garcia, S.; Gardiner, C.; Garrett, C.; Gener, B.; Gibbons, R.; Gillerot, Y.; Gillessen-Kaesbach, G.; Goudie, D.; Grasso, M.; Henderson, A.; Hirst, J.; Hodgson, S.; Holder, S.; Homfrey, T.; Hughes, H.; Kerr, B.; Kumar, A.; Kumar, D.; Lacombe, D.; Lam, W.; Le Merrer, M.; Leonard, N.; Liebelt, J.; Lunt, P.; Lynch, S.; Lyonnet, S.; Magee, A.; Malacarne, M.; Mansour, S.; McEntagart, M.; Majore, S.; McKee, S.; McKeown, C.; Meinecke, P.; Metcalfe, K.; Milani, D.; Mohammad, S.; Munnich, A.; Murray, A.; Nemeth, A.; Neri, G.; Odent, S.; Park, S.; Patton, M.; Penny, E.; Pilz, D.; Plecko, B.; Pollitt, C.; Price, S.; Quarrell, O.; Raas-Rothschild, A.; Rahman, N.; Raith, W.; Rankin, J.; Raymond, L.; Reardon, W.; Reid, E.; Rosser, E.; Ruddy, D.; Saggar-Malik, A.; Santos, H.; Scarano, G.; Schaeffer, G. B.; Schulze, A.; Selicorni, A.; Shaw, A.; Silengo, M.; Smithson, S.; Splitt, M.; Stewart, F.; Stewart, H.; Suri, M.; Sweeney, E.; Tatton-Brown, K.; Temple, I. K.; Thompson, E.; Tischkowitz, M.; Tolmie, J.; Turkmen, S.; Turnpenny, P.; Van Maldergem, L.; Vasudevan, P.; Vaz, I.; Waggoner, D.; Verellen, C.; Viot, G.; Wakeling, E.; Weaver, D.; White, K.; Wilson, L.; Zack, P.; Zampino, G.; Zankl, A.; Rahman, Nazneen.

In: Nature Genetics, Vol. 39, No. 8, 08.2007, p. 963-965.

Research output: Contribution to journalArticle

Douglas, J, Cilliers, D, Coleman, K, Tatton-Brown, K, Barker, K, Bernhard, B, Burn, J, Huson, S, Josifova, D, Lacombe, D, Malik, M, Mansour, S, Reid, E, Cormier-Daire, V, Cole, T, Addor, M, Al Swaid, A, Amiel, J, Andries, S, Archer, H, Barnicoat, A, Barrow, M, Barwell, J, Baujat, G, Becker, K, Berg, J, Bernhard, B, Bhat, M, Bitner, M, Blair, E, Brady, A, Brueton, L, Cavani, S, Cecconi, NV, Chandler, K, Christensen, C, Clarke, A, Clayton-Smith, J, Cole, T, Colleaux, L, Colley, A, Collins, A, Cormier-Daire, V, Danda, S, Davies, S, Day, R, Magali, DR, Dennis, N, Dobbie, A, Edery, P, Elmslie, F, Faravelli, F, Firth, H, Fischetto, R, Fitzpatrick, D, Forzano, F, Foulds, N, Franklin, J, Fryer, A, Garcia, S, Gardiner, C, Garrett, C, Gener, B, Gibbons, R, Gillerot, Y, Gillessen-Kaesbach, G, Goudie, D, Grasso, M, Henderson, A, Hirst, J, Hodgson, S, Holder, S, Homfrey, T, Hughes, H, Kerr, B, Kumar, A, Kumar, D, Lacombe, D, Lam, W, Le Merrer, M, Leonard, N, Liebelt, J, Lunt, P, Lynch, S, Lyonnet, S, Magee, A, Malacarne, M, Mansour, S, McEntagart, M, Majore, S, McKee, S, McKeown, C, Meinecke, P, Metcalfe, K, Milani, D, Mohammad, S, Munnich, A, Murray, A, Nemeth, A, Neri, G, Odent, S, Park, S, Patton, M, Penny, E, Pilz, D, Plecko, B, Pollitt, C, Price, S, Quarrell, O, Raas-Rothschild, A, Rahman, N, Raith, W, Rankin, J, Raymond, L, Reardon, W, Reid, E, Rosser, E, Ruddy, D, Saggar-Malik, A, Santos, H, Scarano, G, Schaeffer, GB, Schulze, A, Selicorni, A, Shaw, A, Silengo, M, Smithson, S, Splitt, M, Stewart, F, Stewart, H, Suri, M, Sweeney, E, Tatton-Brown, K, Temple, IK, Thompson, E, Tischkowitz, M, Tolmie, J, Turkmen, S, Turnpenny, P, Van Maldergem, L, Vasudevan, P, Vaz, I, Waggoner, D, Verellen, C, Viot, G, Wakeling, E, Weaver, D, White, K, Wilson, L, Zack, P, Zampino, G, Zankl, A & Rahman, N 2007, 'Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth', Nature Genetics, vol. 39, no. 8, pp. 963-965. https://doi.org/10.1038/ng2083
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 ; Addor, M. ; Al Swaid, A. ; Amiel, J. ; Andries, S. ; Archer, H. ; Barnicoat, A. ; Barrow, M. ; Barwell, J. ; Baujat, G. ; Becker, K. ; Berg, J. ; Bernhard, B. ; Bhat, M. ; Bitner, M. ; Blair, E. ; Brady, A. ; Brueton, L. ; Cavani, S. ; Cecconi, [No Value] ; Chandler, K. ; Christensen, C. ; Clarke, A. ; Clayton-Smith, J. ; Cole, T. ; Colleaux, L. ; Colley, A. ; Collins, A. ; Cormier-Daire, V. ; Danda, S. ; Davies, S. ; Day, R. ; Magali, D. R. ; Dennis, N. ; Dobbie, A. ; Edery, P. ; Elmslie, F. ; Faravelli, F. ; Firth, H. ; Fischetto, R. ; Fitzpatrick, D. ; Forzano, F. ; Foulds, N. ; Franklin, J. ; Fryer, A. ; Garcia, S. ; Gardiner, C. ; Garrett, C. ; Gener, B. ; Gibbons, R. ; Gillerot, Y. ; Gillessen-Kaesbach, G. ; Goudie, D. ; Grasso, M. ; Henderson, A. ; Hirst, J. ; Hodgson, S. ; Holder, S. ; Homfrey, T. ; Hughes, H. ; Kerr, B. ; Kumar, A. ; Kumar, D. ; Lacombe, D. ; Lam, W. ; Le Merrer, M. ; Leonard, N. ; Liebelt, J. ; Lunt, P. ; Lynch, S. ; Lyonnet, S. ; Magee, A. ; Malacarne, M. ; Mansour, S. ; McEntagart, M. ; Majore, S. ; McKee, S. ; McKeown, C. ; Meinecke, P. ; Metcalfe, K. ; Milani, D. ; Mohammad, S. ; Munnich, A. ; Murray, A. ; Nemeth, A. ; Neri, G. ; Odent, S. ; Park, S. ; Patton, M. ; Penny, E. ; Pilz, D. ; Plecko, B. ; Pollitt, C. ; Price, S. ; Quarrell, O. ; Raas-Rothschild, A. ; Rahman, N. ; Raith, W. ; Rankin, J. ; Raymond, L. ; Reardon, W. ; Reid, E. ; Rosser, E. ; Ruddy, D. ; Saggar-Malik, A. ; Santos, H. ; Scarano, G. ; Schaeffer, G. B. ; Schulze, A. ; Selicorni, A. ; Shaw, A. ; Silengo, M. ; Smithson, S. ; Splitt, M. ; Stewart, F. ; Stewart, H. ; Suri, M. ; Sweeney, E. ; Tatton-Brown, K. ; Temple, I. K. ; Thompson, E. ; Tischkowitz, M. ; Tolmie, J. ; Turkmen, S. ; Turnpenny, P. ; Van Maldergem, L. ; Vasudevan, P. ; Vaz, I. ; Waggoner, D. ; Verellen, C. ; Viot, G. ; Wakeling, E. ; Weaver, D. ; White, K. ; Wilson, L. ; Zack, P. ; Zampino, G. ; Zankl, A. ; Rahman, Nazneen. / Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. In: Nature Genetics. 2007 ; Vol. 39, No. 8. pp. 963-965.
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title = "Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth",
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.",
author = "Jenny Douglas and Deirdre Cilliers and Kim Coleman and Katrina Tatton-Brown and Karen Barker and Brigitte Bernhard and John Burn and Susan Huson and Dragana Josifova and Didier Lacombe and Mohsin Malik and Sahar Mansour and Evan Reid and Valerie Cormier-Daire and Trevor Cole and M. Addor and {Al Swaid}, A. and J. Amiel and S. Andries and H. Archer and A. Barnicoat and M. Barrow and J. Barwell and G. Baujat and K. Becker and J. Berg and B. Bernhard and M. Bhat and M. Bitner and E. Blair and A. Brady and L. Brueton and S. Cavani and Cecconi, {[No Value]} and K. Chandler and C. Christensen and A. Clarke and J. Clayton-Smith and T. Cole and L. Colleaux and A. Colley and A. Collins and V. Cormier-Daire and S. Danda and S. Davies and R. Day and Magali, {D. R.} and N. Dennis and A. Dobbie and P. Edery and F. Elmslie and F. Faravelli and H. Firth and R. Fischetto and D. Fitzpatrick and F. Forzano and N. Foulds and J. Franklin and A. Fryer and S. Garcia and C. Gardiner and C. Garrett and B. Gener and R. Gibbons and Y. Gillerot and G. Gillessen-Kaesbach and D. Goudie and M. Grasso and A. Henderson and J. Hirst and S. Hodgson and S. Holder and T. Homfrey and H. Hughes and B. Kerr and A. Kumar and D. Kumar and D. Lacombe and W. Lam and {Le Merrer}, M. and N. Leonard and J. Liebelt and P. Lunt and S. Lynch and S. Lyonnet and A. Magee and M. Malacarne and S. Mansour and M. McEntagart and S. Majore and S. McKee and C. McKeown and P. Meinecke and K. Metcalfe and D. Milani and S. Mohammad and A. Munnich and A. Murray and A. Nemeth and G. Neri and S. Odent and S. Park and M. Patton and E. Penny and D. Pilz and B. Plecko and C. Pollitt and S. Price and O. Quarrell and A. Raas-Rothschild and N. Rahman and W. Raith and J. Rankin and L. Raymond and W. Reardon and E. Reid and E. Rosser and D. Ruddy and A. Saggar-Malik and H. Santos and G. Scarano and Schaeffer, {G. B.} and A. Schulze and A. Selicorni and A. Shaw and M. Silengo and S. Smithson and M. Splitt and F. Stewart and H. Stewart and M. Suri and E. Sweeney and K. Tatton-Brown and Temple, {I. K.} and E. Thompson and M. Tischkowitz and J. Tolmie and S. Turkmen and P. Turnpenny and {Van Maldergem}, L. and P. Vasudevan and I. Vaz and D. Waggoner and C. Verellen and G. Viot and E. Wakeling and D. Weaver and K. White and L. Wilson and P. Zack and G. Zampino and A. Zankl and Nazneen Rahman",
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AU - Price, S.

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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.

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AU - Van Maldergem, L.

AU - Vasudevan, P.

AU - Vaz, I.

AU - Waggoner, D.

AU - Verellen, C.

AU - Viot, G.

AU - Wakeling, E.

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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.

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