Finding new etiologies of mental retardation and hypotonia: X marks the spot.

R Curtis Rogers, Roger E Stevenson, Richard J Simensen, Kenton R Holden, Charles E Schwartz

Journal: Developmental medicine and child neurology 2008;50(2):104-11

PMID: 18190539

Abstract

Mental retardation (MR) and hypotonia occur together frequently and have a heterogeneous etiology. Molecular and clinical studies have led to the recent discovery of genes on the X chromosome that may be associated with syndromal forms of X-linked MR (XLMR). These disorders manifest additional neurological and somatic features that are helpful in establishing a specific diagnosis and etiology. This article provides an overview of MR and its association with hypotonia, with a review of five 'new' XLMR-hypotonia syndromes.

Address: Greenwood Genetic Center, Greenwood, SC, USA. [email protected]

DOI: 10.1111/j.1469-8749.2007.02022.x

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MeSH Terms: Child, Chromosomes, Human, X, Humans, Membrane Transport Proteins, X-Linked Intellectual Disability, Methyl-CpG-Binding Protein 2, Monocarboxylic Acid Transporters, Muscle Hypotonia, Muscle Spasticity, Mutation, Nerve Tissue Proteins, Plasma Membrane Neurotransmitter Transport Proteins, Sex Chromosome Disorders, Spermine Synthase, Symporters, alpha-Thalassemia