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Coffin Lowry Syndrome: more detail

The Official Parent's Sourcebook on Coffin-lowry Syndrome: A Directory for the Internet Age by Icon Health Publications, 2005-01-30
Coffin-Lowry Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-20
Coffin-Lowry syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Roger, MD Stevenson, 2005

lists with details

Coffin-Lowry Syndrome
coffinlowry syndrome clinical and molecular features coffin-lowry syndromeclinical and molecular features coffin-lowry syndrome clinical and
http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=593
GeneDx :: Genetic Testing And Diagnosis Company
coffinlowry syndrome. coffin-lowry syndrome. RKS2 (aka RPS6KA3). Using genomicDNA obtained from buccal (cheek) swabs or blood (5cc in EDTA),
http://www.genedx.com/services/dis_cls.php
SSBP - Society For The Study Of Behavioural Phenotypes
Collacott RA, Warrington JS, Young ID (1987) coffinlowry syndrome and schizophrenia a Sheldon L, Turk J (1997) coffin-lowry syndrome and hyperkinetic
http://www.ssbp.co.uk/files/syndromes/coflowry.htm

Extractions: Coffin-Lowry syndrome Incidence/prevalence Unknown Genetics Genetic linkage studies have mapped the CLS locus to Xp22.2 (Biancalana et al. 1992), and subsequent analysis has found mutations in the gene for pp90 ribosomal S6 kinase (RSK-2), a growth factor regulated protein kinase that regulates gene transcription (Trivier et al. 1996). One such pathway from RSK-2 to gene transcription is through the activation of cyclic AMP response element binding protein (CREB); CREB has been discovered to be an important nuclear mediator of long term memory, and a linear relationship has been found between RSK-2 mediated CREBtide phosphorylation and IQ in a small sample of patients with CLS (Harum et al. 2001). Physical features There is a characteristic dysmorphology that includes down-slanting palpebral fissures, large mouth with patulous lips, ante-verted nostrils and tapering digits (Gorlin et al. 1990). Pectus carinatum or excavatum found in 80% of hemizygotes and in 30% of heterozygotes is associated with thoracolumbar kyphosis/scoliosis. Various heart malformations have been described. Female hererozygotes show variable clinical manifestations. Life expectancy There are no available data on life expectancy.
Research Findings Register: Summary Number 1137
Many of the mutations in the coffinlowry syndrome patients were missense mutationsand for this type of mutation it is more difficult to be sure that they
http://www.refer.nhs.uk/ViewRecord.asp?ID=1137
References For Coffin-Lowry Syndrome With The MeSH Term Mental
References for coffinlowry syndrome with the MeSH term Mental Retardation,G2D Home. PMID and date. Follow the link to see the corresponding entry by
http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Mental_Retardation:U
Complete List Of Candidates Associated To Coffin-Lowry Syndrome
Complete list of candidates associated to coffinlowry syndrome, G2D Home.The graph represents the BLASTX hits found in the region and the genes predicted
http://www.bork.embl-heidelberg.de/g2d/list_hits_disease.pl?U1210:Coffin-Lowry_s
Novel Mutations In Rsk-2, The Gene For Coffin-Lowry Syndrome (CLS)
The European Journal of Human Genetics is the official Journal of the EuropeanSociety of Human Genetics, publishing highquality, original research papers,
http://www.nature.com/ejhg/journal/v7/n1/abs/5200231a.html

Extractions: NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help SEARCH my account e-alerts subscribe register ... Site features NPG Subject areas Access material from all our publications in your subject area: Biotechnology Cancer Chemistry NEW! Dentistry Development Drug Discovery Earth Sciences ... Physics January 1999, Volume 7, Number 1, Pages 20-26 Table of contents Previous Abstract Next PDF Article Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome (CLS) Fatima Abidi , Sylvie Jacquot , Christopher Lassiter , Elizabeth Trivier and Charles E Schwartz 1,a Center for Molecular Studies, JC Self Research Institute for Human Genetics, Greenwood Genetics Center, Greenwood, SC, USA Furman University, Greenville, SC, USA a Correspondence: Charles Schwartz, PhD, Center for Molecular Studies, JC Self Research Institute, One Gregor Mendel Circle, Greenwood, SC 29646, USA. Tel: 864 388 1800; Fax: 864 388 1707; E-mail: schwartz@ggc.org Abstract Keywords Coffin-Lowry; Rsk-2; SSCP; mental retardation; mutation Received 28 January 1998; revised 6 May 1998; accepted 29 May 1998 January 1999, Volume 7, Number 1, Pages 20-26
Coffin-Lowry Syndrome Foundation Welcome Page
Welcome to The coffinlowry syndrome Foundation Home Page. The purpose of thisweb site is Bienvenue au Home Page de base de syndrome de coffin-lowry.
http://clsf.info/Welcome.htm

Extractions: Español Français Welcome to The Coffin-Lowry Syndrome Foundation Home Page. The purpose of this web site is to provide a clearinghouse for information on Coffin-Lowry Syndrome (CLS), and to provide families affected by Coffin-Lowry syndrome a general forum in which to exchange information, ideas and advice. CLSF provides family matching services, telephone support, an informational database and publishes a newsletter, CLSF News. The newsletter is available in hard-copy and on this web site. CLSF is a non-profit organization and is funded solely by donations and change I find under the couch cushions. Contact CLSF at 425-427-0939 Monday - Friday after 6pm PST or at CLSFoundation@yahoo.com. ".....we can reject everything else: religion, ideology, all received wisdom. But we cannot escape the necessity of love and compassion... This, then, is my true religion, my simple faith. In this sense, there is no need for temple or church, for mosque or synagogue, no need for complicated philosophy, doctrine or dogma. Our own heart, our own mind, is the temple. The doctrine is compassion. Love for others and respect for their rights and dignity, no matter who or what they are: ultimately these are all we need. So long as we practice these in our daily lives, then no matter if we are learned or unlearned, whether we believe in Buddha or God, or follow some other religion or none at all, as long as we have compassion for others and conduct ourselves with restraint out of a sense of responsibility, there is no doubt we will be happy." His Holiness the Dalai Lama
Article: NINDS Coffin Lowry Information Page: NINDS - CureResearch.com
coffinlowry syndrome is a rare genetic disorder characterized by craniofacial The prognosis for individuals with coffin-lowry syndrome varies depending
http://www.cureresearch.com/artic/ninds_coffin_lowry_information_page_ninds.htm
Coffin-Lowry Syndrome Foundation: National Institute Of Neurological Disorders A
The National Institute of Neurological Disorders and Stroke (NINDS) is the leadingsupporter of biomedical research on disorders of the brain and nervous
http://accessible.ninds.nih.gov/find_people/voluntary_orgs/volorg720.htm

Extractions: Find People - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Home About NINDS Disorders Funding ... Jobs and Training You are here: Home Find People Voluntary Organizations The nation's leading supporter of biomedical research on disorders of the brain and nervous system. At NINDS NINDS Staff Advisory Council Labs at NINDS Groups at NINDS Government Other NIH Institutes Government Resources Other related groups Organizations - you are in this section Professional Societies NINDS Search (search help) Contact Us My Privacy NINDS is part of the National Institutes of Health Organization Contact Information Description: Clearinghouse for information on CLS. Provides a general forum for exchanging experiences, advice, and information with other CLS families. Works to facilitate referrals of newly diagnosed individuals and to encourage medical and behavioral research in order to improve methods of social integration of CLS individuals.
John Libbey Eurotext : Ãditions MÃ©dicales Et Scientifiques France : Revues
Drop episodes in coffinlowry syndrome an unusual type of startle response Summary We present a patient with a complete coffin-lowry syndrome,
http://www.john-libbey-eurotext.fr/articles/epd/2/3/173-6/en-resum.htm

Extractions: Summary : We present a patient with a complete Coffin-Lowry syndrome, associated with drop episodes precipitated by sudden auditory stimuli, which provoked in turn, a definite loss of muscle tone in both legs. Electrophysiological studies showed that these episodes are an unusual type of startle response and that they may be associated with Coffin-Lowry syndrome.
303600 COFFIN-LOWRY SYNDROME; CLS
In 3 males in their twenties who had coffinlowry syndrome, Ishida et al. In 7 patients with coffin-lowry syndrome (5 boys and 2 girls), Harum et al.
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:303600] -e
*300075 RIBOSOMAL PROTEIN S6 KINASE, 90-KD, 3; RPS6KA3
.0014 coffinlowry syndrome RPS6KA3, 1-BP DEL, 2144C. In a male infant native tothe Cook Islands with coffin-lowry syndrome (303600), McGaughran and
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:300075] -e
Genes Defective In Rare Disease Help Form Bones - From The Laboratories At Baylo
The disease we were looking at, coffinlowry syndrome, was known to be due to Like patients with coffin-lowry syndrome, mice lacking RSK2 had shorter,
http://www.bcm.edu/fromthelab/vol03/is4/04may_n3.htm

Extractions: Photos Available Upon Request Comments, Suggestions? by Kate Ramsayer Gerard Karsenty, MD, PhD The short stature and brittle bones that worsen over time in patients with Coffin-Lowry Syndrome are the result of a defective protein that the production of new bone tissue, according to researchers Baylor College of Medicine in Houston. In a paper published in the April 30 issue of Cell , scientists follow the path of missteps in this rare disease, from the gene that is mutated in people, to an intermediate protein that should be activated, to the failure of the bone-forming cells called osteoblasts to do their job. Karsenty and his colleagues discovered that one of the proteins activated by is called . They conducted a series of experiments in cell cultures and in mice to examine the effect of and on bone formation. Like patients with Coffin-Lowry Syndrome, mice lacking
Genes Defective In Rare Disease Help Form Bones - Baylor College Of Medicine
The disease we were looking at, coffinlowry syndrome, was known to be due to Like patients with coffin-lowry syndrome, mice lacking RSK2 had shorter,
http://www.bcm.edu/news/item.cfm?newsID=47
ORPHANET® : Base De Données Sur Les Maladies Rares Et Les Médicaments Orpheli
The coffinlowry syndrome (CLS) is a syndromic form of X-linked mental Hanauer, A; coffin-lowry syndrome. Orphanet encyclopedia, September 2001
http://orphanet.infobiogen.fr/data/patho/GB/uk-coffin.html

Extractions: References The Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation that was initially and independently described by Coffin et al. [1966] and Lowry et al. [1971] and definitively distinguished by Tentamy et al. The diagnosis is based on clinical examination (see Gilgenkrantz et al. , 1988, Young, 1988). In adult male patients, the disease has a well-defined phenotype and in most cases it can be diagnosed by professionals trained in genetic disorders. Characteristic features are psychomotor retardation, typical facial dysmorphism and progressive skeletal deformations. Large, soft hands with lax skin and tapering fingers, is usually a strong diagnostic feature. However, the clinical presentation of CLS may vary markedly variable in both severity and the expression of uncommonly associated features, occasionally leading to diagnostic difficulties. In addition, the physical characteristics are usually very mild during infancy and CLS may be confused with other syndromes. In most cases mutation analysis is essential to confirm the diagnosis. In young male patients in particular, the mild physical features of CLS may lead to the diagnosis of other syndromes, most notably alpha-thalassemia with mental retardation syndrome (ATR-X, MIM # 300032), but also to the diagnosis of fragile X syndrome (MIM 309550), Sotos syndrome (MIM # 117550), Williams syndrome (MIM # 194050) and lysosomal storage disease (Plomp
Pediatrics Stimulus-induced Drop Episodes In Coffin-Lowry
coffinlowry syndrome (CLS) is a rare disorder characterized by moderate to severemental retardation, facial dysmorphism, tapering digits, and skeletal
http://www.gobelle.com/p/articles/mi_m0950/is_3_111/ai_98921572
ExactAntigen Rps6ka3 -- Antibodies, ELISA, SiRNA, And Recombinant Proteins
(2002) Xlinked coffin-lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, proteinproduct known under various names pp90(rsk2), RSK2, ISPK, MAPKAP1).
http://www.exactantigen.com/gene/rela/rps6ka3.html
DBGET Result: OMIM 300075
Allelic Variants .0001 coffinlowry syndrome RPS6KA3, 187-BP DEL, (1998)identified a coffin-lowry syndrome (303600) pedigree in which the disorder was
http://www.genome.jp/dbget-bin/www_bget?omim 300075
UniProtKB/Swiss-Prot Entry P51812 [KS6A3_HUMAN] Ribosomal Protein S6 Kinase Alph
Mutations in the kinase Rsk2 associated with coffin-lowry syndrome. ; DISEASE Defects in RPS6KA3 are the cause of coffin-lowry syndrome (CLS)
http://www.expasy.org/uniprot/P51812

Extractions: ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers None Entered in Swiss-Prot in Release 34, October 1996 Sequence was last modified in Release 34, October 1996 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Ribosomal protein S6 kinase alpha 3 Synonyms EC

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