Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view
Article first published online: 2 FEB 2005
Copyright © 2005 Wiley-Liss, Inc.
Journal of Cellular Physiology
Volume 204, Issue 1, pages 8–20, July 2005
How to Cite
Renieri, A., Pescucci, C., Longo, I., Ariani, F., Mari, F. and Meloni, I. (2005), Non-syndromic X-linked mental retardation: From a molecular to a clinical point of view. J. Cell. Physiol., 204: 8–20. doi: 10.1002/jcp.20296
- Issue published online: 25 APR 2005
- Article first published online: 2 FEB 2005
- Manuscript Accepted: 12 OCT 2004
- Manuscript Received: 30 SEP 2004
This review focuses on the 19 identified genes involved in X-linked “non-syndromic” mental retardation (MR) and defines the signaling pathways in which they are involved, focusing on emerging common mechanisms. The majority of proteins are involved in three distinct pathways: (1) Rho GTPases pathway modulating neuronal differentiation and synaptic plasticity; (2) Rab GTPases pathway regulating synaptic vesicle cycling; (3) gene expression regulation. The function of four proteins (ACSL4, AT2, SLC6A8, and SAP102) could not be reconciled to a common pathway. From a clinical point of view, the review discusses whether some common dysmorphic features can be identified even in non-syndromic MR patients and whether it is correct to maintain the distinction between “non-syndromic” and “syndromic” MR. © 2005 Wiley-Liss, Inc.