Literature

A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter. Am J Med Genet 1988 May-Jun;30(1-2):509-21; Abstract

A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome. Am J Med Genet 2006 May 11; Abstract

A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome. Eur J Pediatr 2002 Apr;161(4):179-87. Abstract 

Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome. Am J Med Genet 2000 Nov 13;95(2):93-8 Abstract 

ATF4 Is a Substrate of RSK2 and an Essential Regulator of Osteoblast Biology: Implication for Coffin-Lowry syndrome Cell Vol. 117, 387-398, April 30, 2004 [PDF] Full Text

Brief clinical report: early recognition of the Coffin-Lowry syndrome. Am J Med Genet 1981;8(2):215-20 Abstract

Cardiac involvement in Coffin-Lowry syndrome  Acta Paediatr 1999 Apr;88(4):468-70.  Abstract.

Cardiomyopathy in Coffin-Lowry syndrome. American Journal of Medical Genetics Part A Volume 128A, Issue 2 , Pages 176 - 178. Full Text

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. J Med Genet 1998 Feb;35(2):94-8 Abstract

Coffin-Lowry Syndrome European Journal of Human Genetics (2010) 18, 627-633; doi:10.1038/ejhg.2009.189 Full Text

Coffin-Lowry Syndrome: A 20-Year Follow-Up and Review of Long-Term Outcomes  American Journal of Medical Genetics 111:345-355 (2002), [PDF]  Full Text

Coffin-Lowry syndrome: a multicenter study. Clin Genet 1988 Oct;34(4):230-45 Abstract

Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava. Clin Orthop 1992 Feb;(275):144-51 Abstract

Coffin-Lowry syndrome: clinical and molecular features  Med Genet 2002; 39:705-713 [PDF] Full Text

Coffin-Lowry syndrome GeneReviews - Funded by the NIH - Developed at the University of Washington, Seattle.  July 16, 2002.

Coffin-Lowry syndrome and premature tooth loss: A case report.  Dentistry for Children, March-April 2000, p148, 149,150. Reprinted with permission from the American Academy of Pediatric Dentistry, 211 E. Chicago Avenue, Suite 700, Chicago, IL 60611-2663, phone 312-337-2169, fax 312-337-6329, email aapdinfo@aapd.org Web site: http://www.aapd.org

Coffin-Lowry syndrome and schizophrenia: a family report. J Ment Defic Res 1987 Jun;31 ( Pt 2):199-207 Abstract

Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly. J Laryngol Otol 1994 Feb;108(2):147-8 Abstract

Cognitive impairment in Coffin–Lowry syndrome correlates with reduced RSK2 activation Neurology 2001 56: 207-214.  Abstract

Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene. Genomics 1994 Aug;22(3):617-25 Abstract

Corpus callosum agenesis in Coffin-Lowry syndrome. Genet Couns 1994;5(1):77-80 Abstract

Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22. Am J Med Genet 1995 Dec 4;59(4):512-6 Abstract

Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin–Lowry syndrome Nucleic Acids Res. 2004; 32(3): 1214–1223. Published online 2004 February 18. doi: 10.1093/nar/gkh272. Full Text.  

Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam. Pediatr Neurol 1998 Aug;19(2):148-50 Abstract

Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue. Am J Med Genet 1984 Jun;18(2):195-9 Abstract

Four novel RSK2 mutations in females with Coffin-Lowry syndrome. Eur J Med Genet. 2010 Jul 14 [Epub ahead of print]

Intronic L1 insertion and F268S, novel mutations in RPS6KA3 (RSK2) causing Coffin–Lowry syndrome  Clinical Genetics Volume 64 Issue 6 Page 491 - December 2003 doi:10.1046/j.1399-0004.2003.00166.x Abstract

Germline mosaicism in Coffin-Lowry syndrome. Eur J Hum Genet 1998 Nov-Dec;6(6):578-82 [PDF] Full Text

Late-Onset Sensorineural Hearing Loss in Coffin-Lowry Syndrome  Otorhinolaryngol Relat Spec. 1998 Jul-Aug;60(4):224-6. Abstract

Learning and Memory Paul Lombroso, Rev Bras Pisquiatr 2004:26(3):207-10, original version accepted in English. [PDF] Full Text

Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. Hum Mol Genet 1998 Mar;7(3):549-55 Abstract

Mutation analysis of the RSK2 gene in Coffin-Lowry patients: extensive allelic heterogeneity and a high rate of de novo mutations. Am J Hum Genet 1998 Dec;63(6):1631-40  Abstract

Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 1996 Dec 12;384(6609):567-70 Abstract

New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. J Hum Genet 1998;43(1):59-61 Abstract

Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome Eur J Hum Genet 1999 Jan;7(1):20-6 [PDF] Full Text

Osf2/Cbfa1: A Transcriptional Activator of Osteoblast Differentiation Cell, Vol 89, 747-754, 30 May 1997 Abstract

Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. Am J Med Genet 1993 Mar 1;45(5):552-7 [PDF] Full Text

Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis. Am J Med Genet 1988 May-Jun;30(1-2):523-30 Abstract

Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. J Med Genet 1998 Nov;35(11):890-4 Abstract

Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3. Science. 1999 Aug 6;285(5429):886-91.  Abstract.

Rsk-2 activity is necessary for epidermal growth factor-induced phosphorylation of CREB protein and transcription of c-fos gene. Proc Natl Acad Sci U S A 1998 Oct 13;95(21):12202-7  Abstract

RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes Nakamura M, Yamagata T, Mori M, Momoi MY. Brain Dev. 2005 Mar;27(2):114-7.  Abstract

Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome. PEDIATRICS Vol. 111 No. 3 March 2003, pp. e197-e202 [PDF] Full Text

The Coffin-Lowry syndrome. A study of two new index patients and their families. Eur J Pediatr 1984 Dec;143(2):82-6 Abstract

The Coffin-Lowry syndrome-associated protein RSK2 controls neuroendocrine secretion through the regulation of phospholipase D1 at the exocytotic sites. Ann NY Acad Sci. 2009 Jan; 1152:201-8  Zeniou-Meyer M, Béglé A, Bader MF, Vitale N. Abstract

The Coffin-Lowry syndrome. Experience from four centres. Clin Genet 1982 May;21(5):321-35 Abstract

The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome. J Pediatr 1975 May;86(5):724-31 Abstract

The Musculoskeletal Manifestations of the Coffin-Lowry Syndrome Journal of Pediatric Orthopaedics: January/February 2007 - Volume 27 - Issue 1 - pp 85-89; doi: 10.1097/01.bpo.0000187994.94515.9d; Spine: Original Article.  Herrera-Soto, Jose A. MD; Santiago-Cornier, Alberto MD; Segal, Lee S. MD; Ramirez, Norman MD; Tamai, Junichi MD Abstract

The movement disorders of Coffin-Lowry syndrome. Stephenson JBP, Hoffman MC, Russel, AJ, Falconer J, Beach RC, Tolmie JL, Mcwilliam RC, Zuberi SM. Brain Dev. 2005 Mar;27(2):108-13. Full Text

Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin–Lowry syndrome Tahir Mehmood • Anne Schneider • Je´re´mie Sibillec • Patricia Marques Pereira • Solange Pannetier • Mohamed Raafet Ammar • Doulaye Dembele • Christelle Thibault-Carpentier • Nathalie Rouach • Andre´ Hanauer  Hum Genet DOI 10.1007/s00439-010-0918-0  Full Text - New

Treatment of Drop Attacks in Coffin-Lowry Syndrome With the Use of Sodium Oxybate Navasuma Havaligi, MD, Chandra Matadeen-Ali, MD, Divya S. Khurana, MD, Harold Marks, MD, and Sanjeev V. Kothare, MD Pediatr Neurol 2007;37: 373-374. Full Text

Unreported RSK2 missense mutation in two males sibs with an unusually mild form of Coffin-Lowry syndrome.  J Med Genet 1999;36:775-778 ( October ) [PDF] Full Text

Unusual Splice-Site Mutations in the RSK2 Gene and Suggestion of Genetic Heterogeneity in Coffin-Lowry Syndrome Am J Hum Genet. 2002 June; 70(6): 1421–1433. Full Text.

X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, protein product known under various names: pp90rsk2, RSK2, ISPK, MAPKAP1) European Journal of Human Genetics (2002) 10, 2-5 DOI: 10.1038/sj/ejhg/5200738 [PDF] Full Text