Coffin-Lowry Syndrome Foundation

Literature

Summary Articles about CLS

• Online Mendelian Inheritance in Man (This site is in English) Full Text
• Coffin-Lowry Syndrome author, Dr. Andre Hanauer Sept 2001 OrphaNet Full Text
• Coffin-Lowry Syndrome (CLS) (This site is in English) Madisons Foundation - written for parents Full Text

Full Text Articles/Abstracts

2018

• The natural history of spinal deformity in patients with Coffin-Lowry syndrome.  Welborn M, Farrell S, Knott P, Mayekar E, Mardjetko S. Child Orthop, 2018 Feb 1

2017

• Foramen magnum compression in Coffin-Lowry syndrome: A case report. PubMed Upadia, Jariya; Oakes, Jerry; Hamm, Austin; Hurst, Anna C E; Robin, Nathaniel H. 2017-02-12

2016

• Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea. PubMed Imataka, G; Nakajima, I; Goto, K; Konno, W; Hirabayashi, H; Arisaka, O 2016-01-01
• Concomitant partial exon skipping by a unique missense mutation of RPS6KA3 causes Coffin-Lowry syndrome. PubMed Labonne, Jonathan D J; Chung, Min Ji; Jones, Julie R; Anand, Priya; Wenzel, Wolfgang; Iacoboni, Daniela; Layman, Lawrence C; Kim, Hyung-Goo 2016-01-01

2015

• Mitral and tricuspid valve surgery for Coffin-Lowry syndrome.Yoshida, Takeshi; Ohashi, Takeki; Furui, Masato; Kageyama, Souichirou; Kodani, Noriko; Kobayashi, Yutaka; Hirai, Yasutaka; Sakakura, Reo PubMed, 05/01/2015
• Recurrent Nonconvulsive Status Epilepticus in a Patient with Coffin-Lowry Syndrome. PubMed Gschwind, Markus; Foletti, Giovanni; Baumer, Alessandra; Bottani, Armand; Novy, Jan 2015-07-01
• A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898CT mutation associated with multiple abnormal brain imaging findings. PubMed Tos, T; Alp, M Y; Aksoy, A; Ceylaner, S; Hanauer, A 2015-01-01

2014

• Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain. PubMed Rojnueangnit, Kitiwan; Jones, Julie R; Basehore, Monica J; Robin, Nathaniel H 2014-02-01
• The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. PubMed Nishimoto, Hiromi Koso; Ha, Kyungsoo; Jones, Julie R; Dwivedi, Alka; Cho, Hyun-Min; Layman, Lawrence C; Kim, Hyung-Goo 2014-09-01

2013

• Identification of the first deep intronic mutation in the RPS6KA3 gene in a patient with a severe form of Coffin-Lowry syndrome. PubMed Schneider, Anne; Maas, Saskia M; Hennekam, Raoul C M; Hanauer, André 2013-03-01

2012

• Stimulus-induced drop episodes in Coffin-Lowry syndrome. Hahn JS, Hanauer A. Eur J Med Genet. 2012 May;55(5):335-7. doi: 10.1016/j.ejmg.2012.03.004. Epub 2012 Mar 21. Review. PMID:22490425

2011

Coffin-Lowry syndrome and left ventricular noncompaction cardiomyopathy with a restrictive pattern. PubMed Martinez, Hugo R; Niu, Mary C; Sutton, V Reid; Pignatelli, Ricardo; Vatta, Matteo; Jefferies, John L 2011-12-01
• Hypoplastic root cementum and premature loss of primary teeth in Coffin-Lowry syndrome: a case report. Norderyd J, Aronsson J. Int J Paediatr Dent. 2012 Mar;22(2):154-6. doi: 10.1111/j.1365-263X.2011.01160.x. Epub 2011 Jul 22. PMID: 21781198
• Transcriptome profile reveals AMPA receptor dysfunction in the hippocampus of the Rsk2-knockout mice, an animal model of Coffin-Lowry syndrome. Mehmood T, Schneider A, Sibille J, Marques Pereira P, Pannetier S, Ammar MR, Dembele D, Thibault-Carpentier C, Rouach N, Hanauer A. Hum Genet. 2011 Mar;129(3):255-69. Epub 2010 Nov 30. Erratum in: Hum Genet. 2011 Mar;129(3):271. Sibillec, Jérémie [corrected to Sibille, Jérémie]. PMID:21116650

2001-2010

• Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. PubMed Dugani, Chandrasagar B; Paquin, Annie; Kaplan, David R; Miller, Freda D 2010-11-15
• The Coffin-Lowry syndrome-associated protein RSK2 and neurosecretion. Zeniou-Meyer M, Gambino F, Ammar MR, Humeau Y, Vitale N. Cell Mol Neurobiol. 2010 Nov;30(8):1401-6. Review.PMID: 21061166
• Coffin-Lowry syndrome: a role for RSK2 in mammalian neurogenesis. Dugani CB, Paquin A, Kaplan DR, Miller FD. Dev Biol. 2010 Nov 15;347(2):348-59. Epub 2010 Sep 8. PMID: 20832397
• The Coffin-Lowry syndrome: a case report and review of the literature. Lange IR, Stone P, Aftimos S. J Obstet Gynaecol Can. 2010 Jul;32(7):691-4. Review. PMID: 20707959 PubMed
• Four novel RSK2 mutations in females with Coffin-Lowry syndrome. Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, Chrzanowska K, Popowska E, Krajewska-Walasek M. Eur J Med Genet. 2010 Sep-Oct;53(5):268-73. Epub 2010 Jul 15. PMID: 20637903
• Coffin-Lowry Syndrome and Left Ventricular Noncompaction Cardiomyopathy With a Restrictive Pattern American Journal of Medical Genetics Part A 99999:1-5 2010 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 September 2010
• Four novel RSK2 mutations in females with Coffin-Lowry syndrome. Eur J Med Genet. 2010 Jul 14 [Epub ahead of print]
• Coffin-Lowry Syndrome European Journal of Human Genetics (2010) 18, 627-633; doi:10.1038/ejhg.2009.189 Full Text
• 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; Zeniou-Meyer M, Béglé A, Bader MF, Vitale N. Abstract
• The Coffin–Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1 Proc Natl Acad Sci U S A. 2008 Jun 17; 105(24): 8434–8439.
• 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

 

 

• 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
• 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
• 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
• 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
• Learning and Memory Paul Lombroso, Rev Bras Pisquiatr 2004:26(3):207-10, original version accepted in English. [PDF] Full Text
• 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.
• Cardiomyopathy in Coffin-Lowry syndrome. American Journal of Medical Genetics Part A 2004 Volume 128A, Issue 2 , Pages 176 - 178. Full Text (PDF)
• 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
• Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome. PEDIATRICS Vol. 111 No. 3 March 2003, pp. e197-e202 [PDF] Full Text
• 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
• 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.
• Coffin-Lowry syndrome: clinical and molecular features Med Genet 2002; 39:705-713 [PDF] Full Text (PDF)
• Coffin-Lowry syndrome GeneReviews - Funded by the NIH - Developed at the University of Washington, Seattle.  July 16, 2002.
• 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
• A syndromic form of X-linked mental retardation: the Coffin-Lowry syndrome. Eur J Pediatr 2002 Apr;161(4):179-87. Abstract 
• 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
• Cognitive impairment in Coffin–Lowry syndrome correlates with reduced RSK2 activation Neurology 2001 56: 207-214.  Abstract

1991-2000

• 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
• 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
• 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
• Novel mutations in Rsk-2, the gene for Coffin-Lowry syndrome Eur J Hum Genet 1999 Jan;7(1):20-6 [PDF] Full Text
• Cardiac involvement in Coffin-Lowry syndrome Acta Paediatr 1999 Apr;88(4):468-70.  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
• New radiological finding by magnetic resonance imaging examination of the brain in Coffin-Lowry syndrome. J Hum Genet 1998;43(1):59-61 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
• 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
• Late-Onset Sensorineural Hearing Loss in Coffin-Lowry Syndrome  Otorhinolaryngol Relat Spec. 1998 Jul-Aug;60(4):224-6. Abstract
• Germline mosaicism in Coffin-Lowry syndrome. Eur J Hum Genet 1998 Nov-Dec;6(6):578-82 [PDF] Full Text
• Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam. Pediatr Neurol 1998 Aug;19(2):148-50 Abstract
• "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. J Med Genet 1998 Feb;35(2):94-8 Abstract
• 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
• Osf2/Cbfa1: A Transcriptional Activator of Osteoblast DifferentiationCell, Vol 89, 747-754, 30 May 1997 Abstract
• Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 1996 Dec 12;384(6609):567-70 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
• Coffin-Lowry syndrome with sensorineural deafness and labyrinthine anomaly. J Laryngol Otol 1994 Feb;108(2):147-8 Abstract
• Corpus callosum agenesis in Coffin-Lowry syndrome. Genet Couns 1994;5(1):77-80 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
• 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
• Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava. Clin Orthop 1992 Feb;(275):144-51 Abstract

1981-1990

• 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
• Coffin-Lowry syndrome: a multicenter study. Clin Genet 1988 Oct;34(4):230-45 Abstract
• Coffin-Lowry syndrome and schizophrenia: a family report. J Ment Defic Res 1987 Jun;31 ( Pt 2):199-207 Abstract
• The Coffin-Lowry syndrome. A study of two new index patients and their families. Eur J Pediatr 1984 Dec;143(2):82-6 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
• The Coffin-Lowry syndrome. Experience from four centres. Clin Genet 1982 May;21(5):321-35 Abstract
• Brief clinical report: early recognition of the Coffin-Lowry syndrome. Am J Med Genet 1981;8(2):215-20 Abstract

1970-1980

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