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; S. Mansour; Evan Reid; V. Cormier-Daire; T. Cole; 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; 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

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, S. Mansour, Evan Reid, V. Cormier-Daire, T. 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

Institute of Human Genetics

62 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 language	English
Journal	Nature Genetics
Volume	39
Issue number	8
Pages (from-to)	963-965
Number of pages	3
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng2083
Publication status	Published - 01.06.2007

Research Areas and Centers

Research Area: Medical Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1038/ng2083

Cite this

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., ... 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

@article{4ff21ef757a04aafab2ba36bc00f7220,

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 S. Mansour and Evan Reid and V. Cormier-Daire and T. 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 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 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",

note = "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).",

year = "2007",

month = jun,

day = "1",

doi = "10.1038/ng2083",

language = "English",

volume = "39",

pages = "963--965",

journal = "Nature Genetics",

issn = "1061-4036",

number = "8",

}

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, 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, 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

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 -

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

Abstract

Research Areas and Centers

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this