Costello Syndrome


Research from University of Erlangen has provided new data on myopathy



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This article was published in Pain & Central Nervous System Week, which you can subscribe to online.
2007 OCT 8 -- According to a study from Erlangen, Germany, "Rare reports on patients with congenital myopathy with excess of muscle spindles (CMEMS), hypertrophic cardiomyopathy and variable features resembling Noonan syndrome have been published, but the genetic basis of this condition is so far unknown. We analysed PTPN11 and RAS genes in five unrelated patients with this phenotype, and found HRAS mutations in four of them."

"Two disease-associated mutations, G12V and G12S, have previously been observed in patients with Costello syndrome (CS), and two other mutations, E63K and Q22K, are novel. All four mutations are predicted to enhance downstream HRas signalling, suggesting that CMEMS is a developmental consequence of sustained HRas activation in skeletal muscle. This type of myopathy may represent a previously unrecogned manifestation of CS," wrote I. Vanderburgt and colleagues, University of Erlangen.

The researchers concluded: "However, some patients carrying HRAS mutations may exhibit prominent congenital muscular dysfunction, although features of CS may be less obvious, suggesting that germline HRAS mutations may underlie some cases of otherwise unclassified neonatal neuromuscular disorders."

Vanderburgt and colleagues published their study in the Journal of Medical Genetics (Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation. Journal of Medical Genetics, 2007;44(7):459-462).

For more information, contact M. Zenker, University of Erlangen Nurnberg, Institute Human Genetics, Schwabachanlage 10, D-91054 Erlangen, Germany.

Publisher contact information for the Journal of Medical Genetics is: B M J Publishing Group, British Med Association House, Tavistock Square, London WC1H 9JR, England.

Keywords: Germany, Erlangen, Costello Syndrome, Genetics, Myopathy, Noonan Syndrome, University of Erlangen.

This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.