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.

Renieri, A., Pescucci, C., Longo, I., Ariani, F., Mari, F., & Meloni, I. (2005). Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view. JOURNAL OF CELLULAR PHYSIOLOGY, 204(1), 8-20 [10.1002/jcp.20296].

Non-syndromic X-linked mental retardation: from a molecular to a clinical point of view.

RENIERI, ALESSANDRA;ARIANI, FRANCESCA;MARI, FRANCESCA;MELONI I.
2005

Abstract

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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11365/2945