Non‐syndromic X‐linked mental retardation: From a molecular to a clinical point of view

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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.