Volume 16, Issue 3 (September 2018)                   IRJ 2018, 16(3): 325-329 | Back to browse issues page


XML Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Nikfar A, Mansouri M, Fatemi Abhari G. Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran. IRJ. 2018; 16 (3) :325-329
URL: http://irj.uswr.ac.ir/article-1-888-en.html
1- Department of Genetics and Molecular Medicine, School of Medicine, Zanjan University of Medical Sciences, Zanjan, Iran.
2- Imam Khomeini Genetic Counseling Center, Welfare Organization of Zanjan, Zanjan, Iran.
Abstract:   (2107 Views)
Coffin-Lowry syndrome (CLS) is an X-linked disorder, which affects hemizygous males more severely than females. It is characterized by mental retardation, short stature, head and facial abnormalities, skeletal anomalies and developmental delays. The signs and symptoms vary in different people. We report a 14-year-old male patient, diagnosed with CLS based on his clinical features. Genetic testing revealed a de novo mutation in ribosomal protein S6 kinase alpha-3 (RPS6KA3) gene (c.2185C>T; p. Arg729Trp). This is the first molecularly confirmed case report of a patient with CLS from Iran.
Full-Text [PDF 1662 kb]   (680 Downloads) |   |   Full-Text (HTML)  (138 Views)  
Type of Study: Case Reports | Subject: Genetics
Received: 2018/03/29 | Accepted: 2018/06/20 | Published: 2018/09/1

References
1. Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A. Coffin–Lowry syndrome. European Journal of Human Genetics. 2010; 18(6):627-33. [DOI:10.1038/ejhg.2009.189] [PMID] [PMCID] [DOI:10.1038/ejhg.2009.189]
2. Coffin GS, Siris E, Wegienka LC. Mental retardation with osteocartilaginous anomalies. American Journal of Diseases of Children. 1966; 112(3):205-13. [DOI:10.1001/archpedi.1966.02090120073006] [DOI:10.1001/archpedi.1966.02090120073006]
3. Lowry B, Miller JR, Fraser FC. A new dominant gene mental retardation syndrome: Association with small stature, tapering fingers, characteristic facies, and possible hydrocephalus. American Journal of Diseases of Children. 1971; 121(6):496-500. [DOI:10.1001/archpedi.1971.02100170078009] [PMID] [DOI:10.1001/archpedi.1971.02100170078009]
4. Hanauer A, Young ID. Coffin-Lowry syndrome: Clinical and molecular features. Journal of Medical Genetics. 2002; 39(10):705-13. [DOI:10.1136/jmg.39.10.705] [PMID] [PMCID] [DOI:10.1136/jmg.39.10.705]
5. Herrera-Soto JA, Santiago-Cornier A, Segal LS, Ramirez N, Tamai J. The musculoskeletal manifestations of the Coffin-Lowry syndrome. Journal of Pediatric Orthopaedics. 2007; 27(1):85-9. [DOI:10.1097/01.bpo.0000187994.94515.9d] [DOI:10.1097/01.bpo.0000187994.94515.9d]
6. Welborn M, Farrell S, Knott P, Mayekar E, Mardjetko S. The natural history of spinal deformity in patients with Coffin-Lowry syndrome. Journal of Children's Orthopaedics. 2018; 12(1):70-5. [DOI:10.1302/1863-2548.12.170101] [PMID] [PMCID] [DOI:10.1302/1863-2548.12.170101]
7. Hanauer A, Alembik Y, Gilgenkrantz S, Mujica P, Nivelon‐Chevallier A, Pembrey ME, et al. Probable localisation of the Coffin‐Lowry locus in Xp22. 2‐P22. 1 by multipoint linkage analysis. American Journal of Medical Genetics. 1988; 30(1‐2):523-30. [DOI:10.1002/ajmg.1320300154] [PMID] [DOI:10.1002/ajmg.1320300154]
8. Biancalana V, Briard ML, David A, Gilgenkrantz S, Kaplan J, Mathieu M, et al. Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22. 1-p22. 2. American Journal of Human Genetics. 1992; 50(5):981-7. [PMID] [PMCID] [PMID] [PMCID]
9. Hauge C, Frödin M. RSK and MSK in MAP kinase signalling. Journal of Cell Science. 2006; 119(15):3021-3. [DOI:10.1242/jcs.02950] [PMID] [DOI:10.1242/jcs.02950]
10. Zeniou M, Ding T, Trivier E, Hanauer A. Expression analysis of RSK gene family members: The RSK2 gene, mutated in Coffin–Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. Human Molecular Genetics. 2002; 11(23):2929-40. [DOI:10.1093/hmg/11.23.2929] [PMID] [DOI:10.1093/hmg/11.23.2929]
11. Frödin M, Gammeltoft S. Role and regulation of 90 kDa Ribosomal S6 Kinase (RSK) in signal transduction. Molecular and Cellular Endocrinology. 1999; 151(1-2):65-77. [DOI:10.1016/S0303-7207(99)00061-1] [DOI:10.1016/S0303-7207(99)00061-1]
12. Delaunoy J, Dubos A, Marques Pereira P, Hanauer A. Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin–Lowry syndrome. Clinical Genetics. 2006; 70(2):161-6. [DOI:10.1111/j.1399-0004.2006.00660.x] [PMID] [DOI:10.1111/j.1399-0004.2006.00660.x]
13. Pereira PM, Heron D, Hanauer A. The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient. Human Genetics. 2007; 122(5):541-3. [DOI:10.1007/s00439-007-0424-1] [PMID] [DOI:10.1007/s00439-007-0424-1]
14. Madrigal I, Rodríguez-Revenga L, Armengol L, González E, Rodriguez B, Badenas C, et al. X-chromosome tiling path array detection of copy number variants in patients with chromosome X-linked mental retardation. BMC Genomics. 2007; 8:443. [DOI:10.1186/1471-2164-8-443] [PMID] [PMCID] [DOI:10.1186/1471-2164-8-443]
15. Jurkiewicz D, Jezela-Stanek A, Ciara E, Piekutowska-Abramczuk D, Kugaudo M, Gajdulewicz M, et al. Four novel RSK2 mutations in females with Coffin–Lowry syndrome. European Journal of Medical Genetics. 2010; 53(5):268-73. [DOI:10.1016/j.ejmg.2010.07.006] [PMID] [DOI:10.1016/j.ejmg.2010.07.006]

Send email to the article author


Designed & Developed by : Yektaweb