A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome

Touraine, R; Zeniou, Maria; Hanauer, André

doi:10.1007/s00431-001-0904-6

Cited by 31 publications

(17 citation statements)

References 50 publications

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“…The CLS locus encodes ribosomal S6 kinase (RSK)2, which takes part in RAS‐mitogen‐activated protein kinase signalling . CLS has many cutaneous features, including large lips and lax skin . Female carriers may develop a milder phenotype, which includes obesity and the skin signs described above …”

Section: Other Inherited Disorders With Cutaneous Features and Obesitymentioning

confidence: 99%

Obesity, genetics and the skin

Millington

2012

Clinical and Experimental Dermatology

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SummaryThe increasing problem of obesity in childhood is recognized as both a short-term and long-term serious public-health concern. Excess body weight may contribute to psychological morbidity; cancers; metabolic, cardiovascular and musculoskeletal disorders; and dermatological conditions. There is increasing recognition of the role of genetic factors in the aetiology of obesity. Although in the vast majority of cases these influences are polygenic, some obese children suffer from monogenic disorders, which may present with obesity alone. However, more often than not, they generally display other syndromic features. Some of these syndromes have a clear cutaneous phenotype, and these conditions will be the focus of this review.

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Section: Other Inherited Disorders With Cutaneous Features and Obesitymentioning

confidence: 99%

Obesity, genetics and the skin

Millington

2012

Clinical and Experimental Dermatology

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“…Coffin-Lowry syndrome, first reported by Coffin et al and Lowry et al (Coffin and others 1966; Lowry and others 1971), is a rare X-linked disorder characterized in patients by mental retardation as well as characteristic facial and skeletal abnormalities (Touraine and others 2002; Shalin and others 2006). The disease affects 1 in 40,000–50,000 births with the manifestations milder in females than in males.…”

Section: Synaptic Dysfunction In Mental Disordersmentioning

confidence: 99%

Ras and Rap Signaling in Synaptic Plasticity and Mental Disorders

2010

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The Ras family GTPases (Ras, Rap1, and Rap2) and their downstream mitogen-activated protein kinases (ERK, JNK, and p38MAPK) and PI3K signaling cascades control various physiological processes. In neuronal cells, recent studies have shown that these parallel cascades signal distinct forms of AMPA-sensitive glutamate receptor trafficking during experience-dependent synaptic plasticity and adaptive behavior. Interestingly, both hypo- and hyper-activation of Ras/Rap signaling impair the capacity of synaptic plasticity, underscoring the importance of a “happy-medium” dynamic regulation of the signaling. Moreover, accumulating reports have linked various genetic defects that either up- or down-regulate Ras/Rap signaling with a number of mental disorders associated with learning disability (e.g., Alzheimer’s disease, Angelman syndrome, autism, cardio-facio-cutaneous syndrome, Coffin-Lowry syndrome, Costello syndrome, Cowden and Bannayan-Riley-Ruvalcaba syndromes, fragile X syndrome, neurofibromatosis type 1, Noonan syndrome, schizophrenia, tuberous sclerosis, and X-linked mental retardation), highlighting the necessity of happy-medium dynamic regulation of Ras/Rap signaling in learning behavior. Thus, the recent advances in understanding of neuronal Ras/Rap signaling provide a useful guide for developing novel treatments for mental diseases.

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“…Over 130 mutations distributed throughout the gene have so far been identified in CLS patients, the majority being unique to single families with no obvious correlation with the severity of clinical features (Delaunoy et al 2001;Jacquot et al 1998;Touraine et al 2002). Cognitive deficiencies in CLS patients are prominent, but markedly variable in severity, including between siblings (Hanauer and Young 2002).…”

Section: Introductionmentioning

confidence: 97%

Deletion of the Coffin–Lowry Syndrome Gene Rsk2 in Mice is Associated With Impaired Spatial Learning and Reduced Control of Exploratory Behavior

et al. 2006

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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. 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. 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.

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A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome

Cited by 31 publications

References 50 publications

Obesity, genetics and the skin

Obesity, genetics and the skin

Ras and Rap Signaling in Synaptic Plasticity and Mental Disorders

Deletion of the Coffin–Lowry Syndrome Gene Rsk2 in Mice is Associated With Impaired Spatial Learning and Reduced Control of Exploratory Behavior

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