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Literature

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bullet Online Mendelian Inheritance in Man (This site is in English) Full Text
bullet OrphaNet  author, Dr. Andre Hanaur (This site is in English) Full Text
bullet OrphaNet  author, Docteur Simone Gilgenkrantz  (This site is in French) Full Text
bullet Coffin-Lowry Syndrome (CLS) (This site is in English) Madisons Foundation - written for parents Full Text
bullet A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome European Journal of Pediatrics, Publisher: Springer-Verlag Heidelberg, ISSN: 0340-6199, Issue: Volume 161, Number 4/April 2002, Pages: 179 - 187  Full Text
bullet GEMdatabase Written for health care providers, this site offers an excellent overview.Full Text
bullet Coffin-Lowry Syndrome GeneReviews are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

Full Text Articles/Abstracts

(In alphabetical order by title)

 

bullet 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
bullet 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
bullet A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome. Eur J Pediatr 2002 Apr;161(4):179-87. Abstract Link posted 1/6/07
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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 Link posted 1/6/07

bullet 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
bullet Brief clinical report: early recognition of the Coffin-Lowry syndrome. Am J Med Genet 1981;8(2):215-20 Abstract
bullet Cardiac involvement in Coffin-Lowry syndrome  Acta Paediatr 1999 Apr;88(4):468-70.  Abstract. Link posted 1/6/07
bulletCardiomyopathy in Coffin-Lowry syndrome. American Journal of Medical Genetics Part A Volume 128A, Issue 2 , Pages 176 - 178. Full Text
bullet "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. J Med Genet 1998 Feb;35(2):94-8 Abstract
bulletCoffin-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
bullet Coffin-Lowry syndrome: a multicenter study. Clin Genet 1988 Oct;34(4):230-45 Abstract
bullet Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava. Clin Orthop 1992 Feb;(275):144-51 Abstract
bullet Coffin-Lowry syndrome: clinical and molecular features  Med Genet 2002; 39:705-713 [PDF] Full Text
bulletCoffin-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
bullet Coffin-Lowry syndrome and schizophrenia: a family report. J Ment Defic Res 1987 Jun;31 ( Pt 2):199-207 Abstract
bullet Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly. J Laryngol Otol 1994 Feb;108(2):147-8 Abstract
bullet Cognitive impairment in Coffin–Lowry syndrome correlates with reduced RSK2 activation Neurology 2001 56: 207-214.  Abstract
bullet 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
bullet Corpus callosum agenesis in Coffin-Lowry syndrome. Genet Couns 1994;5(1):77-80 Abstract
bullet 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
bullet 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. Link posted 1/6/07
bullet Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam. Pediatr Neurol 1998 Aug;19(2):148-50 Abstract
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Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue. Am J Med Genet 1984 Jun;18(2):195-9 Abstract

bullet Genes defective in rare disease help form bones Kate Ramsayer, Baylor College of Medicine. Also see Bone  Disease Research at Baylor and M. D. Anderson for additional info on this article. Full Text
bullet 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
bulletGermline mosaicism in Coffin-Lowry syndrome. Eur J Hum Genet 1998 Nov-Dec;6(6):578-82 [PDF] Full Text
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Late-Onset Sensorineural Hearing Loss in Coffin-Lowry Syndrome  Otorhinolaryngol Relat Spec. 1998 Jul-Aug;60(4):224-6. Abstract

bulletLearning and Memory Paul Lombroso, Rev Bras Pisquiatr 2004:26(3):207-10, original version accepted in English. [PDF] Full Text
bullet Learning, Memory and Transcription Errors Pediatric Research 53:369-374 (2003) Full Text
bullet 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
bulletMRI and MRS of Coffin-Lowry syndrome: A case report Neurological Research, Apr 2003 Full Text
bullet Mutation analysis in the causative genes for two X-linked mental retardation disorders: Simpson-Golabi-Behmel Syndrome (SGBS) and Coffin-Lowry Syndrome (CLS) (B1014) Susan Lindsay, 17 November 2003 Full Text
bullet 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
bullet Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 1996 Dec 12;384(6609):567-70 Abstract
bullet New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. J Hum Genet 1998;43(1):59-61 Abstract
bulletNovel mutations in Rsk-2, the gene for Coffin-Lowry syndrome Eur J Hum Genet 1999 Jan;7(1):20-6 [PDF] Full Text
bullet Osf2/Cbfa1: A Transcriptional Activator of Osteoblast Differentiation Cell, Vol 89, 747-754, 30 May 1997 Abstract Link posted 1/6/07
bullet 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
bullet 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
bullet 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
bullet Requirement of Rsk-2 for epidermal growth factor-activated phosphorylation of histone H3. Science. 1999 Aug 6;285(5429):886-91.  Abstract. Link posted 1/6/07
bullet 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
bullet 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
bullet Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome. PEDIATRICS Vol. 111 No. 3 March 2003, pp. e197-e202 [PDF] Full Text
bullet The association between Coffin-Lowry syndrome and psychosis: a family study. J Intellect Disabil Res 1994 Oct;38 ( Pt 5):469-73 Full Text
bullet The Coffin-Lowry syndrome. A study of two new index patients and their families. Eur J Pediatr 1984 Dec;143(2):82-6 Abstract
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The Coffin-Lowry syndrome. Experience from four centres. Clin Genet 1982 May;21(5):321-35 Abstract

bullet The Coffin-Lowry syndrome: an inherited faciodigital mental retardation syndrome. J Pediatr 1975 May;86(5):724-31 Abstract
bullet The movement disorders of Coffin-Lowry syndrome. Stephensen JB, Hoffman MC, Russel, AJ, Falconer J, Beach RC, Tolmie JL, Mcwilliam RC, Zuberi SM. Brain Dev. 2005 Mar;27(2):108-13. Full Text
bulletTreatment 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 Link posted 1/23/08
bulletUnreported 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
bullet 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

 

Additional information on CLS

bullet An explanation of X-Linked dominance
bulletInformation about RPS6KA3 and a continuously updated overview of all RSK2 mutations are available on the following web page (http://www-ulpmed.u-strasbg.fr/chimbio/diag/coffin).