Article
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Molecular psychiatry - 1 Nov 2019
Frints Suzanna G M, Ozanturk Aysegul, Rodríguez Criado Germán, Grasshoff Ute, de Hoon Bas, Field Michael, Manouvrier-Hanu Sylvie, E Hickey Scott, Kammoun Molka, Gripp Karen W, Bauer Claudia, Schroeder Christopher, Toutain Annick, Mihalic Mosher Theresa, 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
Abstract excerpt
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in RLIM (RING finger LIM domain-interacting protein). A total of 40 affected...
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