The RASopathies

Annual Review of Genomics and Human Genetics

Volumn 14, Issue , 2013, Pages 355-369

  Rauen, Katherine A ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Capillary malformation arteriovenous malformation syndrome; Cardio facio cutaneous syndrome; Costello syndrome; Legius syndrome; LEOPARD syndrome; Neurofibromatosis; Noonan syndrome; Ras MAPK; Signal transduction pathway

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; NEUROFIBROMIN; RAS PROTEIN;

ARTERIOVENOUS MALFORMATION; CELL CYCLE REGULATION; CELL DIFFERENTIATION; CELL GROWTH; CHROMOSOME 10Q; CHROMOSOME 11P; CHROMOSOME 11Q; CHROMOSOME 12P; CHROMOSOME 12Q; CHROMOSOME 15Q; CHROMOSOME 17Q; CHROMOSOME 1P; CHROMOSOME 2P; CHROMOSOME 3P; CHROMOSOME 5Q; CHROMOSOME 7Q; COSTELLO SYNDROME; GENE MUTATION; GENETIC DISORDER; HUMAN; NOONAN SYNDROME; REVIEW; SENESCENCE; SIGNAL TRANSDUCTION; SYSTEMIC THERAPY;

ANIMALS; CONGENITAL ABNORMALITIES; HUMANS; MAP KINASE SIGNALING SYSTEM; NEOPLASMS; RAS PROTEINS;

EID: 84884311848     PISSN: 15278204     EISSN: 1545293X     Source Type: Book Series    
DOI: 10.1146/annurev-genom-091212-153523     Document Type: Review

References (70)

1. Acosta MT, Bearden CE, Castellanos XF, Cutting L, Elgersma Y, et al. 2012. The Learning Disabilities Network (LeaDNet): Using neurofibromatosis type 1 (NF1) as a paradigm for translational research. Am. J. Med. Genet. A 158A:2225-32
2. Acosta MT, Kardel PG, Walsh KS, Rosenbaum KN, Gioia GA, Packer RJ. 2011. Lovastatin as treatment for neurocognitive deficits in neurofibromatosis type 1: Phase I study. Pediatr. Neurol. 45:241-45
3. Anastasaki C, Estep AL, Marais R, Rauen KA, Patton EE. 2009. Kinase-Activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors. Hum. Mol. Genet. 18:2543-54
4. Anastasaki C, Rauen KA, Patton EE. 2012. Continual low-levelMEKinhibition ameliorates cardio-faciocutaneous phenotypes in zebrafish. Dis. Models Mech. 5:546-52
5. Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, et al. 2005. Germline mutations in HRAS protooncogene cause Costello syndrome. Nat. Genet. 37:1038-40
6. Basso AD, Kirschmeier P, Bishop WR. 2006. Lipid posttranslational modifications: Farnesyl transferase inhibitors. J. Lipid Res. 47:15-31
7. Boon LM, Mulliken JB, Vikkula M. 2005. RASA1: Variable phenotype with capillary and arteriovenous malformations. Curr. Opin. Genet. Dev. 15:265-69
8. Bos JL. 1989. ras oncogenes in human cancer: A review. Cancer Res. 49:4682-89
9. Brems H, Beert E, De Ravel T, Legius E. 2009. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol. 10:508-15
10. Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, et al. 2007. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat. Genet. 39:1120-26
11. Cawthon RM, O'Connell P, Buchberg AM, Viskochil D, Weiss RB, et al. 1990. Identification and characterization of transcripts from the neurofibromatosis 1 region: The sequence and genomic structure of EVI2 and mapping of other transcripts. Genomics 7:555-65
12. Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, et al. 1990. A major segment of the neurofibromatosis type 1 gene: CDNA sequence, genomic structure, and point mutations. Cell 62:193-201
13. Chabernaud C, Mennes M, Kardel PG, Gaillard WD, Kalbfleisch ML, et al. 2012. Lovastatin regulates brain spontaneous low-frequency brain activity in neurofibromatosis type 1. Neurosci. Lett. 515:28-33
14. Chen PC, WakimotoH, ConnerD, Araki T, Yuan T, et al. 2010. Activation of multiple signaling pathways causes developmental defects in mice with aNoonan syndrome-Associated Sos1 mutation. J. Clin. Investig. 120:4353-65
15. Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, et al. 2010. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat. Genet. 42:27-29
16. Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, et al. 2009. Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat. Genet. 41:1022-26
17. Denayer E, Chmara M, Brems H, Kievit AM, van Bever Y, et al. 2011. Legius syndrome in fourteen families. Hum. Mutat. 32:E1985-98
18. Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, et al. 2002. Grouping of multiplelentigines/ LEOPARD and Noonan syndromes on the PTPN11 gene. Am. J. Hum. Genet. 71:389-94
19. Dikic I, Schmidt MH. 2007. Malfunctions within the Cbl interactome uncouple receptor tyrosine kinases from destructive transport. Eur. J. Cell Biol. 86:505-12
20. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, et al. 2003. Capillary malformation-Arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am. J. Hum. Genet. 73:1240-49
21. Estep AL, Tidyman WE, Teitell MA, Cotter PD, Rauen KA. 2006. HRAS mutations in Costello syndrome: Detection of constitutional activating mutations in codon 12 and 13 and loss of wild-Type allele in malignancy. Am. J. Med. Genet. A 140:8-16
22. Gibbs JB, Sigal IS, Poe M, Scolnick EM. 1984. Intrinsic GTPase activity distinguishes normal and oncogenic ras p21 molecules. Proc. Natl. Acad. Sci. USA 81:5704-8
23. Gripp KW. 2005. Tumor predisposition in Costello syndrome. Am. J. Med. Genet. C 137C:72-77
24. Gripp KW, Stabley DL, Geller PL, Hopkins E, Stevenson DA, et al. 2011. Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome. Am. J. Med. Genet. A 155A:2263-68
25. GrippKW, StableyDL, Nicholson L, Hoffman JD, Sol-Church K. 2006. Somaticmosaicism for an HRAS mutation causes Costello syndrome. Am. J. Med. Genet. A 140A:2163-69
26. Heidorn SJ, Milagre C, Whittaker S, Nourry A, Niculescu-Duvas I, et al. 2010. Kinase-Dead BRAF and oncogenic RAS cooperate to drive tumor progression through CRAF. Cell 140:209-21
27. Hüffmeier U, Zenker M, Hoyer J, Fahsold R, Rauch A. 2006. A variable combination of features of Noonan syndrome and neurofibromatosis type I are caused by mutations in the NF1 gene. Am. J. Med. Genet. A 140A:2749-56
28. Keilhack H, David FS, McGregor M, Cantley LC, Neel BG. 2005. Diverse biochemical properties of Shp2 mutants: Implications for disease phenotypes. J. Biol. Chem. 280:30984-93
29. Kontaridis MI, Swanson KD, David FS, Barford D, Neel BG. 2006. PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J. Biol. Chem. 281:6785-92
30. Krab LC, De Goede-Bolder A, Aarsen FK, Pluijm SM, Bouman MJ, et al. 2008. Effect of simvastatin on cognitive functioning in children with neurofibromatosis type 1: A randomized controlled trial. JAMA 300:287-94
31. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. 2011. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am. J. Med. Genet. C 157C:83-89
32. Legius E, Schrander-Stumpel C, SchollenE, Pulles-Heintzberger C, Gewillig M, Fryns JP. 2002. PTPN11 mutations in LEOPARD syndrome. J. Med. Genet. 39:571-74
33. Lin AE, Alexander ME, Colan SD, Kerr B, Rauen KA, et al. 2011. Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome. Am. J. Med. Genet. A 155A:486-507
34. Martinelli S, De Luca A, Stellacci E, Rossi C, Checquolo S, et al. 2010. Heterozygous germlinemutations in the CBL tumor-suppressor gene cause aNoonan syndrome-like phenotype. Am. J.Hum. Genet. 87:250-57
35. Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, et al. 2010. Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat. Genet. 42:794-800
36. Niihori T, Aoki Y, Narumi Y, Neri G, Cavé H, et al. 2006. Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat. Genet. 38:294-96
37. OishiK, Zhang H, GaultWJ, WangCJ, Tan CC, et al. 2009. Phosphatase-DefectiveLEOPARDsyndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development. Hum. Mol. Genet. 18:193-201
38. Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, et al. 2007. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat. Genet. 39:1007-12
39. Pritchard C, Carragher L, Aldridge V, Giblett S, Jin H, et al. 2007. Mouse models for BRAF-induced cancers. Biochem. Soc. Trans. 35:1329-33
40. Rauen KA. 2007. HRAS and the Costello syndrome. Clin. Genet. 71:101-8
41. Rauen KA, Banerjee A, Bishop WR, Lauchle JO, McCormick F, et al. 2011. Costello and cardio-faciocutaneous syndromes: Moving toward clinical trials in RASopathies. Am. J. Med. Genet. C 157C:136-46
42. RauenKA, Schoyer L, McCormick F, Lin AE, Allanson JE, et al. 2010. Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am. J. Med. Genet. A 152A:4-24
43. RauenKA, TidymanWE, Estep AL, Sampath S, PeltierHM, et al. 2010. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations. Am. J. Med. Genet. A 152A:807-14
44. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, et al. 2007. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat. Genet. 39:1013-17
45. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, et al. 2008. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum. Mutat. 29:959-65
46. RobertsAE, ArakiT, Swanson KD, MontgomeryKT, Schiripo TA, et al. 2007. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat. Genet. 39:70-74
47. Rodriguez-Viciana P, Oses-Prieto J, Burlingame A, FriedM, McCormick F. 2006. A phosphatase holoenzyme comprised of Shoc2/Sur8 and the catalytic subunit of PP1 functions as anM-Ras effector tomodulate Raf activity. Mol. Cell 22:217-30
48. Rodriguez-Viciana P, Tetsu O, TidymanWE, Estep AL, Conger BA, et al. 2006. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311:1287-90
49. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, et al. 2010. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics 126:746-59
50. Schubbert S, Bollag G, Lyubynska N, Nguyen H, Kratz CP, et al. 2007. Biochemical and functional characterization of germ line KRAS mutations. Mol. Cell. Biol. 27:7765-70
51. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, et al. 2006. Germline KRAS mutations cause Noonan syndrome. Nat. Genet. 38:331-36
52. Shukla V, Coumoul X, Wang RH, Kim HS, Deng CX. 2007. RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat. Genet. 39:1145-50
53. Siegel DH, Mann JA, Krol AL, Rauen KA. 2011. Dermatological phenotype in Costello syndrome: Consequences of Ras dysregulation in development. Br. J. Dermatol. 164:521-29
54. Siegel DH, McKenzie J, Frieden IJ, Rauen KA. 2011. Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome. Br. J. Dermatol. 166:601-7
55. Sol-Church K, Stabley DL, Demmer LA, Agbulos A, Lin AE, et al. 2009. Male-To-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. Am. J. Med. Genet. A 149A:315-21
56. Sol-Church K, Stabley DL, Nicholson L, Gonzalez IL, Gripp KW. 2006. Paternal bias in parental origin of HRAS mutations in Costello syndrome. Hum. Mutat. 27:736-41
57. Stevenson DA, Viskochil DH, Rope AF, Carey JC. 2006. Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. Clin. Genet. 69:246-53
58. Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, et al. 2006. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am. J. Hum. Genet. 78:279-90
59. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, et al. 2001. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat. Genet. 29:465-68
60. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, et al. 2007. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat. Genet. 39:75-79
61. TidymanWE, Rauen KA. 2008. Noonan, Costello and cardio-facio-cutaneous syndromes: Dysregulation of the Ras-MAPK pathway. Expert Rev. Mol. Med. 10:e37
62. TidymanWE, RauenKA. 2009. Molecular cause of cardio-facio-cutaneous syndrome. In Noonan Syndrome and Related Disorders: A Matter of Deregulated Ras Signaling, Monogr. Hum. Genet. 17, ed. M Zenker, pp. 73-82. Basel, Switz.: Karger
63. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, et al. 1990. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 62:187-92
64. Wakioka T, Sasaki A, Kato R, Shouda T, Matsumoto A, et al. 2001. Spred is a Sprouty-related suppressor of Ras signalling. Nature 412:647-51
65. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, et al. 1990. Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients. Science 249:181-86
66. Wang Y, Kim E, Wang X, Novitch BG, Yoshikawa K, et al. 2012. ERK inhibition rescues defects in fate specification of Nf1-Deficient neural progenitors and brain abnormalities. Cell 150:816-30
67. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. 2009. Neurofibromatosis type 1 revisited. Pediatrics 123:124-33
68. Yoon G, Rosenberg J, Blaser S, Rauen KA. 2007. Neurological complications of cardio-facio-cutaneous syndrome. Dev. Med. Child Neurol. 49:894-99
69. Yoon S, Seger R. 2006. The extracellular signal-regulated kinase: Multiple substrates regulate diverse cellular functions. Growth Factors 24:21-44
70. ZampinoG, Pantaleoni F, Carta C, Cobellis G, Vasta I, et al. 2007. Diversity, parental germline origin, and phenotypic spectrum of De novo HRAS missense changes in Costello syndrome. Hum. Mutat. 28:265-72