Article
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
Human molecular genetics - 15 Feb 2018
Piard Juliette, Hu Jia-Hua, Campeau Philippe M, Rzonca Sylwia, Van Esch Hilde, Vincent Elizabeth, Han Mei, Rossignol Elsa, Castaneda Jennifer, Chelly Jamel, Skinner Cindy, Kalscheuer Vera M, Wang Ruihua, Lemyre Emmanuelle, Kosinska Joanna, Stawinski Piotr, Bal Jerzy, Hoffman Dax A, Schwartz Charles E, Van Maldergem Lionel, Wang Tao, Worley Paul F
Abstract excerpt
FRMPD4 (FERM and PDZ Domain Containing 4) is a neural scaffolding protein that interacts with PSD-95 to positively regulate dendritic spine morphogenesis, and with mGluR1/5 and Homer to regulate mGluR1/5 signaling. We report the genetic and functional characterization of 4 FRMPD4 deleterious mutations that cause a new X-linked intellectual disability (ID) syndrome. These mutations were found to be associated with...
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