Coffin-Lowry Syndrome
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What is Coffin-Lowry syndrome?Coffin-Lowry syndrome is a condition associated with mental retardation and delayed development, short stature, and skeletal abnormalities. Distinctive facial features (including wide-spaced and downward-slanting eyes, a short nose with a wide tip, and full lips) and soft hands with short, tapered fingers are also characteristic of this condition. Males are usually more severely affected than females, but the signs and symptoms of Coffin-Lowry syndrome range from very mild to severe in affected women. How common is Coffin-Lowry syndrome?The incidence of this condition is uncertain, but the disorder probably affects 1 in 40,000 to 50,000 births. What genes are related to Coffin-Lowry syndrome?Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. The RPS6KA3 gene makes a protein that is involved in signaling within cells. Researchers believe that the protein helps control the activity of other genes and may play an important role in the central nervous system. Mutations in the RPS6KA3 gene disturb the function of the protein, but it is not well understood how mutations lead to the signs and symptoms of Coffin-Lowry syndrome. Some people with the features of Coffin-Lowry syndrome do not have identified mutations in the RPS6KA3 gene. In these cases, the cause is unknown. How do people inherit Coffin-Lowry syndrome?This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition. In most cases, males (who have one X chromosome in each cell) experience more severe signs and symptoms of the disorder than females (who have two X chromosomes in each cell). A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Most people with Coffin-Lowry syndrome have no history of the condition in their families. These cases are caused by new mutations in the RPS6KA3 gene.
Source: National Institutes of Health
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Researchers at University of Paris release new data on behavior
2007 MAY 15 -- Data detailed in "Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior" have been presented. "Coffin-Lowry Syndrome (CLS) is an X-linked syndromic form of mental retardation associated with skeletal abnormalities. It is caused by mutations of the Rsk2 gene, which encodes a growth factor regulated kinase," investigators in Orsay, France report. "Gene deletion studies in mice have shown an essential role for the Rsk2 gene in osteoblast differentiation and function, establishing a causal link between Rsk2 deficiency and skeletal abnormalities of CLS. Although analyses in mice have revealed prominent expression of Rsk2 in brain structures that are essential for learning and memory, evidence at the behavioral level for an involvement of Rsk2 in cognitive function is still lacking. Here, we have examined Rsk2-deficient mice in two extensive batteries of behavioral tests, which were conducted independently in two laboratories in Zurich (Switzerland) and Orsay (France). Despite the known reduction of bone mass, all parameters of motor function were normal, confirming the suitability of Rsk2-deficient mice for behavioral testing. Rsk2-deficient mice showed a mild impairment of spatial working memory, delayed acquisition of a spatial reference memory task and long-term spatial memory deficits. In contrast, associative and recognition memory, as well as the habituation of exploratory activity were normal. Our studies also revealed mild signs of disinhibition in exploratory activity, as well as a difficulty to adapt to new test environments, which likely contributed to the learning impairments displayed by Rsk2-deficient mice," wrote R. Poirier and colleagues, University of Paris. The researchers concluded: "The observed behavioral changes are in line with observations made in other mouse models of human mental retardation and support a role of Rsk2 in cognitive functions." Poirier and colleagues published their study in Behavior Genetics (Deletion of the Coffin-Lowry syndrome gene Rsk2 in mice is associated with impaired spatial learning and reduced control of exploratory behavior. Behavior Genetics, 2007;37(1):31-50). For additional information, contact R. Poirier, Universite Paris-Sud, Laboratoire de Neurobiologie de l'Apprentissage, de la Memoire et de la Communication CNRS, UMR 8620, 91405, Orsay, France. The publisher of the journal Behavior Genetics can be contacted at: Kluwer Academic, Plenum Publ, 233 Spring St., New York, NY 10013, USA. Keywords: France, Orsay, Behavior. This article was prepared by Life Science Weekly editors from staff and other reports. Copyright 2007, Life Science Weekly via NewsRx.com.
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