PTPN11 Gen Mutasyonu: Noonan Sendrom’lu Bir Olgu

Yıl 2015, Cilt: 4 Sayı: 1, 25 - 26, 01.04.2015

Serdar Karatoprak Emine Yaşar İbrahim Tekedereli

Öz

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

Anahtar Kelimeler

Noonan sendromu, PTPN11 mutasyonu, Kısa boy sendromu

PTPN11 Gene Mutation: A Casewithnoonan Syndrome

Öz

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

Anahtar Kelimeler

Noonan syndrome, PTPN11 mutation, Short Stature Syndromes

Kaynakça

• 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.