Coffin-Lowry Syndrome (Syndrome, Coffin-Lowry)

A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

Also Known As:

Networked: 55 relevant articles (1 outcomes, 1 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Obstructive Sleep Apnea
2.	Syncope (Fainting)
3.	Intellectual Disability (Idiocy)
4.	X-Linked Mental Retardation (Mental Retardation, X Linked)
5.	Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)

Experts

1.	Hanauer, André: 10 articles (12/2013 - 01/2002)
2.	Pannetier, Solange: 4 articles (10/2013 - 12/2008)
3.	Bader, Marie-France: 3 articles (12/2013 - 06/2008)
4.	Vitale, Nicolas: 3 articles (12/2013 - 06/2008)
5.	Marques Pereira, Patricia: 3 articles (03/2011 - 12/2007)
6.	Delaunoy, J P: 3 articles (01/2011 - 10/2001)
7.	Ammar, Mohamed-Raafet: 2 articles (12/2013 - 11/2010)
8.	Momoi, Mariko Y: 2 articles (11/2013 - 03/2005)
9.	Yamagata, Takanori: 2 articles (11/2013 - 03/2005)
10.	Mehmood, Tahir: 2 articles (11/2011 - 03/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Coffin-Lowry Syndrome:

1.	Clonazepam (Rivotril)FDA LinkGeneric 08/01/1998 - "Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam." 01/01/2014 - "Stimulus-induced myoclonus treated effectively with clonazepam in genetically confirmed Coffin-Lowry syndrome." 11/01/2007 - "We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks."
2.	Sodium Oxybate (gamma Hydroxybutyrate)FDA Link 11/01/2007 - "Treatment of drop attacks in Coffin-Lowry syndrome with the use of sodium oxybate." 11/01/2007 - "We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks."
3.	Anticonvulsants (Antiepileptic Drugs)IBA 11/01/2007 - "We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks."
4.	EscitalopramFDA Link 11/01/2007 - "We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks."
5.	Proteins (Proteins, Gene)FDA Link 11/01/2010 - "The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion." 01/01/2002 - "X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90(rsk2), RSK2, ISPK, MAPKAP1)." 11/01/1998 - "We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the RSK2 gene, leading to in-phase skipping of exon 5. Western blot analysis, using an antibody directed against the C-terminus of RSK2, failed to reveal RSK2 in this patient, suggesting strongly that the resulting internally deleted protein is unstable. " 01/01/2013 - "Loss-of function mutations in the RPS6KA3 gene, which encodes the RSK2 protein, have been implicated in Coffin-Lowry Syndrome (CLS), an X-linked mental retardation disorder associated with cognitive deficits and behavioral impairments. " 01/01/2009 - "The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites."
6.	Phosphotransferases (Kinase)IBA 01/01/2016 - "Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation." 02/01/2014 - "Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain." 12/12/1996 - "Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome." 11/01/1998 - "Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome." 07/05/2002 - "Cells from a Coffin-Lowry syndrome patient (deficient in RSK2) or expressing an N-terminal or C-terminal kinase-dead mutant of MSK1 were defective for UVB-induced serine 112 phosphorylation of Bad. "
7.	polypeptide 3 90kDa ribosomal protein S6 kinaseIBA 10/01/2009 - "Mutations in Ribosomal s6 kinase 2 (Rsk2) are associated with severe neuronal dysfunction in Coffin-Lowry syndrome (CLS) patients, flies and mice. " 12/01/2003 - "Two novel mutations of the ribosomal S6 kinase 2 gene (also known as RSK2) have been identified in two unrelated patients with Coffin-Lowry syndrome. " 10/01/1999 - "An unreported missense mutation of the ribosomal S6 kinase 2 (RSK2) gene has been identified in two male sibs with a mild form of Coffin-Lowry syndrome (CLS) inherited from their healthy mother. " 10/01/2001 - "Coffin-Lowry syndrome is a rare X-linked, semi-dominant mental retardation syndrome resulting from mutations of the ribosomal S6 kinase 2 (RSK2) gene. " 12/11/2013 - "We show here that neurons cultured from mice lacking ribosomal S6 kinase 2 (Rsk2), a model for the Coffin-Lowry syndrome (CLS), exhibit a significant delay in growth in a similar way to that shown by neurons cultured from phospholipase D1 (Pld1) knock-out mice. "
8.	Ribosomal Protein S6 Kinases (S6 Kinase)IBA 12/01/2008 - "To further investigate RSK2 (90-kDa ribosomal S6 kinase) implication in cognitive processes, a mrsk2_KO mouse has previously been generated as an animal model of Coffin-Lowry syndrome. " 01/01/2016 - "The ribosomal S6 kinase RSK2 is essential for osteoblast function, and inactivating mutations of RSK2 cause osteopenia in humans with Coffin-Lowry syndrome (CLS). " 11/01/2011 - "Coffin-Lowry syndrome is a syndromic form of mental retardation caused by mutations of the Rps6ka3 gene encoding ribosomal s6 kinase (RSK)2. RSK2 belongs to a family containing four members in mammals: RSK1-4. " 03/01/2005 - "Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. " 11/01/2013 - "The ribosomal protein S6 kinase, 90 kb, polypeptide 3 gene (RPS6KA3) is responsible for Coffin-Lowry syndrome (CLS), which is characterized by intellectual disability (ID) and facial and bony abnormalities. "
9.	Protein Kinases (Protein Kinase)IBA 12/01/2007 - "Heterogeneous mutations in the X-linked gene RPS6KA3, encoding the protein kinase RSK2, are responsible for Coffin-Lowry Syndrome. " 01/01/2004 - "Coffin-Lowry syndrome (CLS) is caused by mutations in the RSK2 gene encoding a protein kinase of the Ras signalling pathway. " 11/01/1998 - "We have recently shown that Coffin-Lowry syndrome is caused by mutations in the gene encoding RSK2, a growth factor regulated protein kinase. " 01/01/2002 - "Coffin-Lowry syndrome (CLS) is an X-linked semidominant condition, caused by mutations in the gene encoding the ribosomal protein S6 kinase-2 (RSK-2), a growth factor regulating protein kinase, which is mapped to Xp 22.2. " 01/23/2001 - "Patients with the X-linked disorder Coffin-Lowry syndrome (CLS) have cognitive disabilities, distinctive features, and bony abnormalities as well as mutations in RSK2 (ribosomal S6 kinase-2), a protein kinase that activates CREB by phosphorylation at serine 133. "
10.	Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA 09/01/2007 - "Coffin-Lowry syndrome is a semi-dominant condition characterized by severe psychomotor retardation with facial, hand and skeletal malformations resulting from mutations in RSK2 gene, encoding for a serine/threonine kinase. " 10/01/2013 - "The Coffin-Lowry syndrome (CLS) is a syndromic form of intellectual disability caused by loss-of-function of the RSK2 serine/threonine kinase encoded by the rsk2 gene. " 03/01/2011 - "Coffin-Lowry syndrome (CLS) is a syndromic form of mental retardation caused by loss of function mutations in the X-linked RPS6KA3 gene, which encodes RSK2, a serine/threonine kinase acting in the MAPK/ERK pathway. " 01/01/2004 - "The 90 kDa ribosomal S6 serine/threonine kinase 2 gene (RSK2, U08316) has been recently identified as a disease-causing gene in an X-linked disorder, the Coffin-Lowry Syndrome (MIM 303600) characterized by severe mental retardation, facial dysmorphisms and progressive skeletal malformations. " 09/01/2006 - "Ribosomal S6 kinase 2 (RSK2) is a serine/threonine kinase that plays a role in human cancer and Coffin-Lowry syndrome and is comprised of two nonidentical kinase domains, each domain with its own ATP-binding site. "

Therapies and Procedures

1.	Tracheotomy 01/01/2016 - "Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome."
2.	Therapeutics 11/01/2007 - "We report on a 22-year-old man with Coffin-Lowry syndrome with stimulus-induced drop episodes, who failed therapy with clonazepam, several antiepileptic drugs, and escitalopram, and who was given a trial of sodium oxybate with complete resolution of the drop attacks."
3.	Decompression 11/01/2014 - "Male patient with Coffin-Lowry syndrome who evolved with narrow cervical canal plus myelomalacia at short age, making decompression from C3 to C6 and instrumentation from C2 to C7 necessary. " 08/01/2016 - "We report 8 years of follow-up after decompression to treat cervical myelopathy in a patient with Coffin-Lowry syndrome (CLS). " 02/01/2014 - "A 12-year-old male patient with Coffin-Lowry syndrome was scheduled for posterior cervical decompression and fusion for cervical spinal injuries. "
4.	Perioperative Period 01/01/2013 - "We share our experience of management of a child with Coffin Lowry syndrome and also discuss the problems faced during perioperative period."
5.	Airway Management 03/01/2016 - "Difficult airway management using the Pentax-AWS Airwayscope with a thin Intlock and bronchofiberscope in a patient with Coffin-Lowry syndrome."