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Coffin-Lowry syndrome



Coffin-Lowry syndrome
Classification & external resources
ICD-9 759.89
OMIM 303600
DiseasesDB 2934
MeSH D038921
Coffin-lowry syndrome was characterised by Coffin (1966)and Lowry (1971)

Coffin-Lowry syndrome is a condition associated with mental retardation and delayed development, characteristic facial features, and skeletal abnormalities like scoliosis ans cyphosis. Males are usually more severely affected than females, but the condition can range from very mild to severe in affected women.IQ of male patinets is generally between 15 and 60. This condition is inherited in an X-linked dominant pattern. Males usually carry this disease more often than females because males only have one X chromosome, while females have two.

Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. This gene is located on the short arm of the X chromosome (Xp22.2). The RPS6KA3 gene makes a protein that is involved with signaling within cells. The protein RSK2 which is encoded by the RPS6KA3 gene is a kinase which phosphorylates some substrats like CREB and histone H3.RSK2 is involved at the distal end of the Ras/MAPK signaling pathway. 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 disturb the function of the protein, but it is not well understood how mutations lead to the signs and symptoms of Coffin-Lowry syndrome. At this time more than 120 mutations have been found1. 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.

This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the 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 is sufficient to cause the condition. In most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

A majority of boys with Coffin-Lowry syndrome have no history of the condition in their families. These cases are caused by new mutations in the RPS6KA3 gene (de novo mutations). A new mutation means that neither parent has the altered gene, but the affected individual could pass it on to his children.

There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services.

This article incorporates public domain text from The U.S. National Library of Medicine and the National Institute of Neurological Disorders and Stroke.

Additional recommended knowledge

Contents

Description

Coffin-Lowry syndrome is a severe mental retardation associated with abnormalities of:

Growth

In utero growth is normal but post natal growth is very low. Sometimes a microcephaly appears.

Neurology and comportment

often describe as funny but it's not constant. This pathology is also responsible of brutal fall without lucidity lost when visual and auditory stimulis. This affect about 20% of the patients.

Cardio-vascular

Cardiac abnormalities affect 15% of the patients

Skeleton

Progressive Cyphosis scolosis affects 1 patients in 2

Vision and audition

Audition abnormalities are frequent and often present. Vision abnormalities are not often present. [[

references

1 Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A. Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. Clin Genet. 2006 Aug;70(2):161-6.

2 this article is in part a translation of the french article' ==]]

 
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Coffin-Lowry_syndrome". A list of authors is available in Wikipedia.
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