참고문헌
- van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994;53:187-91. https://doi.org/10.1002/ajmg.1320530213
- Roberts AE, Allanson JE, Tartaglia M, Gelb BD. Noonan syndrome. Lancet 2013;381:333-42. https://doi.org/10.1016/S0140-6736(12)61023-X
- Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, et al. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 2002;71:389-94. https://doi.org/10.1086/341528
- Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, et al. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. J Med Genet 2007;44:763-71. https://doi.org/10.1136/jmg.2007.050450
- Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van der Burgt I, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 2002;70:1555-63. https://doi.org/10.1086/340847
- Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010;126:746-59. https://doi.org/10.1542/peds.2009-3207
- Tajan M, Paccoud R, Branka S, Edouard T, Yart A. The RASopathy family: consequences of germline activation of the RAS/MAPK pathway. Endocr Rev 2018;39:676-700. https://doi.org/10.1210/er.2017-00232
- Niihori T, Nagai K, Fujita A, Ohashi H, Okamoto N, Okada S, et al. Germline-activating RRAS2 mutations cause Noonan syndrome. Am J Hum Genet 2019;104:1233-40. https://doi.org/10.1016/j.ajhg.2019.04.014
- Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 2009;19:230-6. https://doi.org/10.1016/j.gde.2009.04.001
- Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y. The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat 2008;29:992-1006. https://doi.org/10.1002/humu.20748
- Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet 2005;6:45-68. https://doi.org/10.1146/annurev.genom.6.080604.162305
- Zenker M, Buheitel G, Rauch R, Koenig R, Bosse K, Kress W, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr 2004;144:368-74. https://doi.org/10.1016/j.jpeds.2003.11.032
- Ko JM, Kim JM, Kim GH, Yoo HW. PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. J Hum Genet 2008;53:999-1006. https://doi.org/10.1007/s10038-008-0343-6
- Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, et al. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. J Med Genet 2007;44:131-5. https://doi.org/10.1136/jmg.2006.046300
- Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, et al. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat 2009;30:695-702. https://doi.org/10.1002/humu.20955
- Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, et al. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 2010;42:27-9. https://doi.org/10.1038/ng.497
- Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, et al. Mutation of SHOC2 promotes aberrant protein Nmyristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 2009;41:1022-6. https://doi.org/10.1038/ng.425
- Schulz AL, Albrecht B, Arici C, van der Burgt I, Buske A, Gillessen-Kaesbach G, et al. Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. Clin Genet 2008;73:62-70. https://doi.org/10.1111/j.1399-0004.2007.00931.x
- Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, et al. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 2006;38:294-6. https://doi.org/10.1038/ng1749
- Narumi Y, Aoki Y, Niihori T, Neri G, Cave H, Verloes A, et al. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. Am J Med Genet A 2007;143A:799-807. https://doi.org/10.1002/ajmg.a.31658
- Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, et al. Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations. Eur J Hum Genet 2009;17:733-40. https://doi.org/10.1038/ejhg.2008.256
- Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, et al. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 2007;39:1007-12. https://doi.org/10.1038/ng2073
- Kerr B, Delrue MA, Sigaudy S, Perveen R, Marche M, Burgelin I, et al. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J Med Genet 2006;43:401-5. https://doi.org/10.1136/jmg.2005.040352
- Lee BH, Kim JM, Jin HY, Kim GH, Choi JH, Yoo HW. Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. J Pediatr 2011;159:1029-35. https://doi.org/10.1016/j.jpeds.2011.05.024
- Komatsuzaki S, Aoki Y, Niihori T, Okamoto N, Hennekam RC, Hopman S, et al. Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies. J Hum Genet 2010;55:801-9. https://doi.org/10.1038/jhg.2010.116
- Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, et al. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 2007;39:1013-7. https://doi.org/10.1038/ng2078
- Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, et al. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 2007;39:75-9. https://doi.org/10.1038/ng1939
- Gureasko J, Kuchment O, Makino DL, Sondermann H, Bar-Sagi D, Kuriyan J. Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless. Proc Natl Acad Sci U S A 2010;107:3430-5. https://doi.org/10.1073/pnas.0913915107
- Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 2003;34:148-50. https://doi.org/10.1038/ng1156
- Kobayashi T, Aoki Y, Niihori T, Cave H, Verloes A, Okamoto N, et al. Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation. Hum Mutat 2010;31:284-94. https://doi.org/10.1002/humu.21187
- Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, et al. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 2007;39:70-4. https://doi.org/10.1038/ng1926
- Stofega MR, Herrington J, Billestrup N, Carter-Su C. Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GHpromoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B. Mol Endocrinol 2000;14:1338-50. https://doi.org/10.1210/mend.14.9.0513
- Kouz K, Lissewski C, Spranger S, Mitter D, Riess A, Lopez-Gonzalez V, et al. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. Genet Med 2016;18:1226-34. https://doi.org/10.1038/gim.2016.32
- Jorge AA, Malaquias AC, Arnhold IJ, Mendonca BB. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res 2009;71:185-93. https://doi.org/10.1159/000201106
- Jongmans MC, van der Burgt I, Hoogerbrugge PM, Noordam K, Yntema HG, Nillesen WM, et al. Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. Eur J Hum Genet 2011;19:870-4. https://doi.org/10.1038/ejhg.2011.37
- Raaijmakers R, Noordam C, Karagiannis G, Gregory JW, Hertel NT, Sipila I, et al. Response to growth hormone treatment and final height in Noonan syndrome in a large cohort of patients in the KIGS database. J Pediatr Endocrinol Metab 2008;21:267-73. https://doi.org/10.1515/jpem.2008.21.3.267
- Kirk JM, Betts PR, Butler GE, Donaldson MD, Dunger DB, Johnston DI, et al. Short stature in Noonan syndrome: response to growth hormone therapy. Arch Dis Child 2001;84:440-3. https://doi.org/10.1136/adc.84.5.440
- Osio D, Dahlgren J, Wikland KA, Westphal O. Improved final height with long-term growth hormone treatment in Noonan syndrome. Acta Paediatr 2005;94:1232-7. https://doi.org/10.1111/j.1651-2227.2005.tb02081.x
- Tamburrino F, Gibertoni D, Rossi C, Scarano E, Perri A, Montanari F, et al. Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: patterns of growth, puberty and final height data. Am J Med Genet A 2015;167A:2786-94.
- Noordam C, Peer PG, Francois I, De Schepper J, van den Burgt I, Otten BJ. Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11. Eur J Endocrinol 2008;159:203-8. https://doi.org/10.1530/EJE-08-0413
- Romano AA, Dana K, Bakker B, Davis DA, Hunold JJ, Jacobs J, et al. Growth response, near-adult height, and patterns of growth and puberty in patients with Noonan syndrome treated with growth hormone. J Clin Endocrinol Metab 2009;94:2338-44. https://doi.org/10.1210/jc.2008-2094
- Padidela R, Camacho-Hubner C, Attie KM, Savage MO. Abnormal growth in Noonan syndrome: genetic and endocrine features and optimal treatment. Horm Res 2008;70:129-36. https://doi.org/10.1159/000145016
- Choi JH, Lee BH, Jung CW, Kim YM, Jin HY, Kim JM, et al. Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation. Horm Res Paediatr 2012;77:388-93. https://doi.org/10.1159/000339677
- Kavamura MI, Neri G. Cardio-Facio-Cutaneous syndrome. In: Cassidy SB, Allanson JE, eds. Management of genetic syndromes. 3rd ed. Hoboken: Wiley-Blackwell, 2010;149-56.
- Kerr B, Gripp KW, Lin AE. Costello syndrome. In: Cassidy SB, Allanson JE, eds. Management of genetic syndromes. 3rd ed. Hoboken: Wiley-Blackwell, 2010:211-25.