988368
جمعه 2 آذر 1403
دوره 16، شماره 3 - ( September 1397 )
جلد 16 شماره 3 صفحات 329-325 |
برگشت به فهرست نسخه ها
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
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. Iranian Rehabilitation Journal 2018; 16 (3) :325-329
URL: http://irj.uswr.ac.ir/article-1-888-fa.html
URL: http://irj.uswr.ac.ir/article-1-888-fa.html
Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran. مجله انگلیسی زبان توانبخشی. 1397; 16 (3) :325-329
چکیده: (6102 مشاهده)
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.
فهرست منابع
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]
