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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
place into a coffin; "her body was coffined"
box in which a corpse is buried or cremated (同)casket
English painter (1887-1976) (同)L. S. Lowry, Laurence Stephen Lowry
English novelist (1909-1957) (同)Malcolm Lowry, Clarence Malcolm Lowry
British political cartoonist (born in New Zealand) who created the character Colonel Blimp (1891-1963) (同)David Low, Sir David Low, Sir David Alexander Cecil Low

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態
『棺』,ひつぎ

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/02 06:36:12」(JST)

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Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.

History

It was characterized by Grange S. Coffin (b. 1923) in 1966 and Robert Brian Lowry (b. 1932) in 1971.^[1]^[2]^[3]

Coffin–Lowry syndrome was independently described by Dr. Coffin and his associates in 1966 and later described by Dr. Lowry and associates in 1971. Dr. Temtamy showed that the cases represented a single syndrome in 1975.

Causes

The syndrome is caused by mutations in the RPS6KA3 gene.^[4] 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. Researchers believe that this protein helps control the activity of other genes and plays an important role in the brain. The protein is involved in cell signaling pathways that are required for learning, the formation of long-term memories, and the survival of nerve cells. The protein RSK2 which is encoded by the RPS6KA3 gene is a kinase which phosphorylates some substrates like CREB and histone H3. RSK2 is involved at the distal end of the Ras/MAPK signaling pathway. Mutations in the RPS6KA3 disturb the function of the protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin–Lowry syndrome. At this time more than 120 mutations have been found.^[1] Some people with the features of Coffin–Lowry syndrome do not have identified mutations in the RPS6KA3 gene. In these cases, the cause of the condition 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.

Prognosis

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

Symptoms

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

Growth

In utero growth is normal but post natal growth is retarded. Patients are sometimes microcephalic.
Cardio-vascular

Cardiac abnormalities affect 15% of the patients.
Skeleton

Progressive kyphoscoliosis affects 1 in 2 patients. Micrognathia is also associated with this syndrome.

Patients may also have an underdeveloped upper jaw bone, abnormally prominent brows, or widely spaced eyes.
Vision and audition

Auditory abnormalities are frequent and often present. Vision abnormalities are not often present.

References

^ ^a ^b synd/3425 at Who Named It?
^ Coffin GS, Siris E, Wegienka LC (1966). "Mental retardation with osteocartilaginous anomalies". Am. J. Dis. Child. 112: 205–213. doi:10.1001/archpedi.1966.02090120073006.
^ Lowry B, Miller JR, Fraser FC (June 1971). "A new dominant gene mental retardation syndrome. Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus". Am. J. Dis. Child. 121 (6): 496–500. doi:10.1001/archpedi.1971.02100170078009. PMID 5581017.
^ Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A (August 2006). "Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin–Lowry syndrome". Clin. Genet. 70 (2): 161–6. doi:10.1111/j.1399-0004.2006.00660.x. PMID 16879200.

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

External links

GeneReviews/UW/NIH entry on Coffin–Lowry syndrome
Coffin–Lowry Syndrome Foundation
http://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome
http://www.wrongdiagnosis.com/c/coffin_lowry_syndrome/symptoms.htm

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English Journal

RSK2 signaling in brain habenula contributes to place aversion learning.

Darcq E, Koebel P, Del Boca C, Pannetier S, Kirstetter AS, Garnier JM, Hanauer A, Befort K, Kieffer BL.SourceInstitut de Genetique et de Biologie Moleculaire et Cellulaire, Centre National de la Recherche Scientifique/Institut National de la Sante et de la Recherche Medicale/Universite de Strasbourg, 67404 Illkirch, France.
Learning & memory (Cold Spring Harbor, N.Y.).Learn Mem.2011 Aug 18;18(9):574-8. doi: 10.1101/lm.2221011. Print 2011 Sep.
RSK2 is a Ser/Thr kinase acting in the Ras/MAPK pathway. Rsk2 gene deficiency leads to the Coffin-Lowry Syndrome, notably characterized by cognitive deficits. We found that mrsk2 knockout mice are unable to associate an aversive stimulus with context in a lithium-induced conditioned place aversion t
PMID 21852432

Altered ERK/MAPK signaling in the hippocampus of the mrsk2_KO mouse model of Coffin-Lowry syndrome.

Schneider A, Mehmood T, Pannetier S, Hanauer A.SourceDepartment of Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC), Institut National de Sante et de Recherche Medicale (INSERM) U964/Centre National de Recherche Scientifique (CNRS) UMR 1704/Universite de Strasbourg, 67404 Illkirch, France. Department of Chemistry, University of Sargodha, 40100, Sargodha, Pakistan.
Journal of neurochemistry.J Neurochem.2011 Aug 12. doi: 10.1111/j.1471-4159.2011.07423.x. [Epub ahead of print]
Coffin-Lowry syndrome is a syndromic form of mental retardation caused by mutations of the Rps6ka3 gene encoding RSK2. RSK2 belongs to a family containing four members in mammals: RSK1-4. RSKs are serine/threonine kinases and cytosolic substrates of extracellular signal-regulated kinase (ERK) in the
PMID 21838783