Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Suzanna G. M. Frints; Aysegul Ozanturk; German Rodriguez Criado; Ute Grasshoff; Bas de Hoon; Michael Field; Sylvie Manouvrier-Hanu; Scott E. Hickey; Molka Kammoun; Karen W. Gripp; Claudia Bauer; Christopher Schroeder; Annick Toutain; Theresa Mihalic Mosher; Benjamin J. Kelly; Peter White; Andreas Dufke; Eveline Rentmeester; Sungjin Moon; Daniel C. Koboldt; Kees E. P. van Roozendaal; Hao Hu; Stefan A. Haas; Hans-Hilger Ropers; Lucinda Murray; Eric Haan; Marie Shaw; Renee Carroll; Kathryn Friend; Jan Liebelt; Lynne Hobson; Marjan De Rademaeker; Joep Geraedts; Jean-Pierre Fryns; Joris Vermeesch; Martine Raynaud; Olaf Riess; Joost Gribnau; Nicholas Katsanis; Koen Devriendt; Peter Bauer; Jozef Gecz; Christelle Golzio; Cristina Gontan; Vera M. Kalscheuer

doi:10.1038/s41380-018-0065-x

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

Suzanna G. M. Frints^*, Aysegul Ozanturk, German Rodriguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E. Hickey, Molka Kammoun, Karen W. Gripp, Claudia Bauer, Christopher Schroeder, Annick Toutain, Theresa Mihalic Mosher, Benjamin J. Kelly, Peter White, Andreas Dufke, Eveline Rentmeester, Sungjin Moon, Daniel C. KoboldtKees E. P. van Roozendaal, Hao Hu, Stefan A. Haas, Hans-Hilger Ropers, Lucinda Murray, Eric Haan, Marie Shaw, Renee Carroll, Kathryn Friend, Jan Liebelt, Lynne Hobson, Marjan De Rademaeker, Joep Geraedts, Jean-Pierre Fryns, Joris Vermeesch, Martine Raynaud, Olaf Riess, Joost Gribnau, Nicholas Katsanis, Koen Devriendt, Peter Bauer, Jozef Gecz, Christelle Golzio, Cristina Gontan, Vera M. Kalscheuer^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	1748-1768
Number of pages	21
Journal	Molecular Psychiatry
Volume	24
Issue number	11
DOIs	https://doi.org/10.1038/s41380-018-0065-x
Publication status	Published - Nov 2019

Keywords

GENE UBE2A CAUSE
CHROMOSOME INACTIVATION
FUNCTIONAL-ACTIVITY
LIM COFACTORS
MUTATIONS
PROTEIN
RNF12
RLIM
NPAS3
TRANSCRIPTION

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10.1038/s41380-018-0065-x

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Frints, S. G. M., Ozanturk, A., Rodriguez Criado, G., Grasshoff, U., de Hoon, B., Field, M., Manouvrier-Hanu, S., Hickey, S. E., Kammoun, M., Gripp, K. W., Bauer, C., Schroeder, C., Toutain, A., Mosher, T. M., Kelly, B. J., White, P., Dufke, A., Rentmeester, E., Moon, S., ... Kalscheuer, V. M. (2019). Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. Molecular Psychiatry, 24(11), 1748-1768. https://doi.org/10.1038/s41380-018-0065-x

Frints, Suzanna G. M. ; Ozanturk, Aysegul ; Rodriguez Criado, German ; Grasshoff, Ute ; de Hoon, Bas ; Field, Michael ; Manouvrier-Hanu, Sylvie ; Hickey, Scott E. ; Kammoun, Molka ; Gripp, Karen W. ; Bauer, Claudia ; Schroeder, Christopher ; Toutain, Annick ; Mosher, Theresa Mihalic ; Kelly, Benjamin J. ; White, Peter ; Dufke, Andreas ; Rentmeester, Eveline ; Moon, Sungjin ; Koboldt, Daniel C. ; van Roozendaal, Kees E. P. ; Hu, Hao ; Haas, Stefan A. ; Ropers, Hans-Hilger ; Murray, Lucinda ; Haan, Eric ; Shaw, Marie ; Carroll, Renee ; Friend, Kathryn ; Liebelt, Jan ; Hobson, Lynne ; De Rademaeker, Marjan ; Geraedts, Joep ; Fryns, Jean-Pierre ; Vermeesch, Joris ; Raynaud, Martine ; Riess, Olaf ; Gribnau, Joost ; Katsanis, Nicholas ; Devriendt, Koen ; Bauer, Peter ; Gecz, Jozef ; Golzio, Christelle ; Gontan, Cristina ; Kalscheuer, Vera M. / Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. In: Molecular Psychiatry. 2019 ; Vol. 24, No. 11. pp. 1748-1768.

@article{30fdd59dcf2a45e3982aa00f5997e5a8,

title = "Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder",

keywords = "GENE UBE2A CAUSE, CHROMOSOME INACTIVATION, FUNCTIONAL-ACTIVITY, LIM COFACTORS, MUTATIONS, PROTEIN, RNF12, RLIM, NPAS3, TRANSCRIPTION",

author = "Frints, {Suzanna G. M.} and Aysegul Ozanturk and {Rodriguez Criado}, German and Ute Grasshoff and {de Hoon}, Bas and Michael Field and Sylvie Manouvrier-Hanu and Hickey, {Scott E.} and Molka Kammoun and Gripp, {Karen W.} and Claudia Bauer and Christopher Schroeder and Annick Toutain and Mosher, {Theresa Mihalic} and Kelly, {Benjamin J.} and Peter White and Andreas Dufke and Eveline Rentmeester and Sungjin Moon and Koboldt, {Daniel C.} and {van Roozendaal}, {Kees E. P.} and Hao Hu and Haas, {Stefan A.} and Hans-Hilger Ropers and Lucinda Murray and Eric Haan and Marie Shaw and Renee Carroll and Kathryn Friend and Jan Liebelt and Lynne Hobson and {De Rademaeker}, Marjan and Joep Geraedts and Jean-Pierre Fryns and Joris Vermeesch and Martine Raynaud and Olaf Riess and Joost Gribnau and Nicholas Katsanis and Koen Devriendt and Peter Bauer and Jozef Gecz and Christelle Golzio and Cristina Gontan and Kalscheuer, {Vera M.}",

year = "2019",

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doi = "10.1038/s41380-018-0065-x",

language = "English",

volume = "24",

pages = "1748--1768",

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Frints, SGM, Ozanturk, A, Rodriguez Criado, G, Grasshoff, U, de Hoon, B, Field, M, Manouvrier-Hanu, S, Hickey, SE, Kammoun, M, Gripp, KW, Bauer, C, Schroeder, C, Toutain, A, Mosher, TM, Kelly, BJ, White, P, Dufke, A, Rentmeester, E, Moon, S, Koboldt, DC, van Roozendaal, KEP, Hu, H, Haas, SA, Ropers, H-H, Murray, L, Haan, E, Shaw, M, Carroll, R, Friend, K, Liebelt, J, Hobson, L, De Rademaeker, M, Geraedts, J, Fryns, J-P, Vermeesch, J, Raynaud, M, Riess, O, Gribnau, J, Katsanis, N, Devriendt, K, Bauer, P, Gecz, J, Golzio, C, Gontan, C & Kalscheuer, VM 2019, 'Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder', Molecular Psychiatry, vol. 24, no. 11, pp. 1748-1768. https://doi.org/10.1038/s41380-018-0065-x

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder. / Frints, Suzanna G. M.; Ozanturk, Aysegul; Rodriguez Criado, German; Grasshoff, Ute; de Hoon, Bas; Field, Michael; Manouvrier-Hanu, Sylvie; Hickey, Scott E.; Kammoun, Molka; Gripp, Karen W.; Bauer, Claudia; Schroeder, Christopher; Toutain, Annick; Mosher, Theresa Mihalic; Kelly, Benjamin J.; White, Peter; Dufke, Andreas; Rentmeester, Eveline; Moon, Sungjin; Koboldt, Daniel C.; van Roozendaal, Kees E. P.; Hu, Hao; Haas, Stefan A.; Ropers, Hans-Hilger; Murray, Lucinda; Haan, Eric; Shaw, Marie; Carroll, Renee; Friend, Kathryn; Liebelt, Jan; Hobson, Lynne; De Rademaeker, Marjan; Geraedts, Joep; Fryns, Jean-Pierre; Vermeesch, Joris; Raynaud, Martine; Riess, Olaf; Gribnau, Joost; Katsanis, Nicholas; Devriendt, Koen; Bauer, Peter; Gecz, Jozef; Golzio, Christelle; Gontan, Cristina; Kalscheuer, Vera M.

In: Molecular Psychiatry, Vol. 24, No. 11, 11.2019, p. 1748-1768.

Research output: Contribution to journal › Article › Academic › peer-review

TY - JOUR

T1 - Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

AU - Frints, Suzanna G. M.

AU - Ozanturk, Aysegul

AU - Rodriguez Criado, German

AU - Grasshoff, Ute

AU - de Hoon, Bas

AU - Field, Michael

AU - Manouvrier-Hanu, Sylvie

AU - Hickey, Scott E.

AU - Kammoun, Molka

AU - Gripp, Karen W.

AU - Bauer, Claudia

AU - Schroeder, Christopher

AU - Toutain, Annick

AU - Mosher, Theresa Mihalic

AU - Kelly, Benjamin J.

AU - White, Peter

AU - Dufke, Andreas

AU - Rentmeester, Eveline

AU - Moon, Sungjin

AU - Koboldt, Daniel C.

AU - van Roozendaal, Kees E. P.

AU - Hu, Hao

AU - Haas, Stefan A.

AU - Ropers, Hans-Hilger

AU - Murray, Lucinda

AU - Haan, Eric

AU - Shaw, Marie

AU - Carroll, Renee

AU - Friend, Kathryn

AU - Liebelt, Jan

AU - Hobson, Lynne

AU - De Rademaeker, Marjan

AU - Geraedts, Joep

AU - Fryns, Jean-Pierre

AU - Vermeesch, Joris

AU - Raynaud, Martine

AU - Riess, Olaf

AU - Gribnau, Joost

AU - Katsanis, Nicholas

AU - Devriendt, Koen

AU - Bauer, Peter

AU - Gecz, Jozef

AU - Golzio, Christelle

AU - Gontan, Cristina

AU - Kalscheuer, Vera M.

PY - 2019/11

Y1 - 2019/11

KW - GENE UBE2A CAUSE

KW - CHROMOSOME INACTIVATION

KW - FUNCTIONAL-ACTIVITY

KW - LIM COFACTORS

KW - MUTATIONS

KW - PROTEIN

KW - RNF12

KW - RLIM

KW - NPAS3

KW - TRANSCRIPTION

U2 - 10.1038/s41380-018-0065-x

DO - 10.1038/s41380-018-0065-x

M3 - Article

VL - 24

SP - 1748

EP - 1768

JO - Molecular Psychiatry

JF - Molecular Psychiatry

SN - 1359-4184

IS - 11

ER -