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PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu

Year 2015, Volume: 4 Issue: 1, 25 - 26, 01.04.2015

Abstract

Noonan Sendromu, boy kısalığı, düşük arka saç çizgisi, yele boyun, göğüs duvarı deformiteleri, koagülasyon ve konjenital kalp defektleri ile karakterize ender bir genetik hastalıktır. Benzer klinik bulgular nedeniyle toplumda daha sık olarak karşılaşılan Turner sendromu ile karıştırılmaktadır. Bu çalışmada boy kısalığı nedeni ile kliniğimize başvuran 17 yaşında Noonan Sendromu tanısı alan bir olgu sunulmuştur

References

  • 1. Noonan JA, Ehmke DA. Associated noncardiac malformations in children with congenital heart disease. J Pediatr 1963; 31: 150-3.
  • 2. Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002; 70: 1555-63.
  • 3. Croonen EA, Nillesen W, Schrander C, et al. Noonan syndrome: Comparing mutation-positive with mutationnegative dutch patients. Mol Syndromol 2013; 4(5): 227-34.
  • 4. Pandit B, Sarkozy A, Pennacchio LA, et. all. Gain-offunction RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007; 39: 1007–12.
  • 5. Schubbert S, Zenker M, Rowe SL, et. al. Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006; 38: 331–6.
  • 6. Nava C, Hanna N, Michot C, et al. CFC and Noonan syndromes due to mutations in RAS/MAPK signaling pathway: genotype/phenotype relationships and overlap with Costello syndrome. J Med Genet 2007; 44: 763–71.
  • 7. Cirstea IC, Kutsche K, Dvorsky R, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010; 42: 27-9
  • 8. Şimşek-Kiper PÖ, Alanay Y, Gülhan B, et al. Clinical and molecular analysis of patients with RASopathies in Turkish patients. Clin Genet 2012; 83(2): 181-6.
  • 9. Binder G, Neuer K, Ranke MB, et al. PTPN11 mutations are associated with mild GH resistance in individuals with Noonan syndrome. J Clin Endocrinol Metab 2005; 90(9): 5377-81.
  • 10. Digilio MC, Conti E, Sarkozy A, et al. Grouping of multiple-Lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 2002; 71(2): 389-94.
  • 11. Van der Burgt I, Thoonen G, Roosenboom N, et al. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr 1999; 135(6): 707-13.

PTPN11 Gene Mutation: A Casewithnoonan Syndrome

Year 2015, Volume: 4 Issue: 1, 25 - 26, 01.04.2015

Abstract

Noonan syndrome is rare genetic disorder characterized with sort stature, low posterior hairline, webbed neck, chest wall deformities, coagulation and congenital heart defects. Because of similar clinical findings, Noonan syndrome is often misdiagnosed as Turner syndrome which is more common in population. In this study, a 17 years old patient who was admitted to our clinic with short stature and diagnosed Noonan syndrome is presented

References

  • 1. Noonan JA, Ehmke DA. Associated noncardiac malformations in children with congenital heart disease. J Pediatr 1963; 31: 150-3.
  • 2. Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002; 70: 1555-63.
  • 3. Croonen EA, Nillesen W, Schrander C, et al. Noonan syndrome: Comparing mutation-positive with mutationnegative dutch patients. Mol Syndromol 2013; 4(5): 227-34.
  • 4. Pandit B, Sarkozy A, Pennacchio LA, et. all. Gain-offunction RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007; 39: 1007–12.
  • 5. Schubbert S, Zenker M, Rowe SL, et. al. Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006; 38: 331–6.
  • 6. Nava C, Hanna N, Michot C, et al. CFC and Noonan syndromes due to mutations in RAS/MAPK signaling pathway: genotype/phenotype relationships and overlap with Costello syndrome. J Med Genet 2007; 44: 763–71.
  • 7. Cirstea IC, Kutsche K, Dvorsky R, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet. 2010; 42: 27-9
  • 8. Şimşek-Kiper PÖ, Alanay Y, Gülhan B, et al. Clinical and molecular analysis of patients with RASopathies in Turkish patients. Clin Genet 2012; 83(2): 181-6.
  • 9. Binder G, Neuer K, Ranke MB, et al. PTPN11 mutations are associated with mild GH resistance in individuals with Noonan syndrome. J Clin Endocrinol Metab 2005; 90(9): 5377-81.
  • 10. Digilio MC, Conti E, Sarkozy A, et al. Grouping of multiple-Lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 2002; 71(2): 389-94.
  • 11. Van der Burgt I, Thoonen G, Roosenboom N, et al. Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression. J Pediatr 1999; 135(6): 707-13.
There are 11 citations in total.

Details

Primary Language Turkish
Journal Section Research Article
Authors

Serdar Karatoprak This is me

Emine Yaşar This is me

İbrahim Tekedereli This is me

Publication Date April 1, 2015
Published in Issue Year 2015 Volume: 4 Issue: 1

Cite

APA Karatoprak, S., Yaşar, E., & Tekedereli, İ. (2015). PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu. Annals of Health Sciences Research, 4(1), 25-26.
AMA Karatoprak S, Yaşar E, Tekedereli İ. PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu. Ann Health Sci Res. April 2015;4(1):25-26.
Chicago Karatoprak, Serdar, Emine Yaşar, and İbrahim Tekedereli. “PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu”. Annals of Health Sciences Research 4, no. 1 (April 2015): 25-26.
EndNote Karatoprak S, Yaşar E, Tekedereli İ (April 1, 2015) PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu. Annals of Health Sciences Research 4 1 25–26.
IEEE S. Karatoprak, E. Yaşar, and İ. Tekedereli, “PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu”, Ann Health Sci Res, vol. 4, no. 1, pp. 25–26, 2015.
ISNAD Karatoprak, Serdar et al. “PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu”. Annals of Health Sciences Research 4/1 (April 2015), 25-26.
JAMA Karatoprak S, Yaşar E, Tekedereli İ. PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu. Ann Health Sci Res. 2015;4:25–26.
MLA Karatoprak, Serdar et al. “PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu”. Annals of Health Sciences Research, vol. 4, no. 1, 2015, pp. 25-26.
Vancouver Karatoprak S, Yaşar E, Tekedereli İ. PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu. Ann Health Sci Res. 2015;4(1):25-6.