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Neurogenetics. 2007 Apr;8(2):143-7. Epub 2007 Feb 22.

Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.

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1
Center for Interdisciplinary Brain Sciences Research, Stanford University School of Medicine, 401 Quarry Road, MC5795, Stanford, CA 94305-5795, USA. skesler@stanford.edu

Abstract

Coffin-Lowry syndrome (CLS) is a rare form of X-linked mental retardation caused by mutations of the RSK2 gene, associated with cognitive impairment and skeletal malformations. We conducted the first morphometric study of CLS brain morphology by comparing brain volumes from two CLS families with healthy controls. Individuals with CLS consistently showed markedly reduced total brain volume. Cerebellum and hippocampus volumes were particularly impacted by CLS and may be associated with specific interfamilial RSK2 mutations. We provide preliminary evidence that the magnitude of hippocampus volume deviation from that of controls may predict general cognitive outcome in CLS.

PMID:
17318637
PMCID:
PMC3055244
DOI:
10.1007/s10048-007-0080-6
[Indexed for MEDLINE]
Free PMC Article
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