Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

European Journal of Human Genetics

Volumn 24, Issue 8, 2016, Pages 1124-1131

  Cavé, Hélène ^a,b   Caye, Aurélie ^a,b   Ghedira, Nehla ^a,b   Capri, Yline ^a   Pouvreau, Nathalie ^a   Fillot, Natacha ^a   Trimouille, Aurélien ^a,b   Vignal, Cédric ^a   Fenneteau, Odile ^a   Alembik, Yves ^c   Alessandri, Jean Luc ^d   Blanchet, Patricia ^e   Boute, Odile ^f   Bouvagnet, Patrice ^g   David, Albert ^h   Coeslier, Anne Dieux ^f   Doray, Bérénice ^c   Dulac, Olivier ⁱ   Garraud, N Valérie Droui ^j   Gérard, Marion ^k   Héron, Delphine ^l   Isidor, Bertrand ^h   Lacombe, Didier ^m   Lyonnet, Stanislas ⁱ   Perrin, Laurence ^a   Rio, Marlène ⁱ   Roume, Jo'lle ⁿ   Sauvion, Sylvie ^o   Toutain, Annick ^p   Vincent Delorme, Catherine ^f   Willems, Marjorie ⁱ   Baumann, Clarisse ^a   Verloes, Alain ^a,q   more..

^a HÔPITAL ROBERT DEBRÉ   (France)

^b UNIVERSITÉ PARIS DIDEROT   (France)

^c UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^d University Hospital   (France)

^e MONTPELLIER UNIVERSITY HOSPITAL   (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g LOUIS PRADEL HOSPITAL   (France)

^h NANTES UNIVERSITY HOSPITAL   (France)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j ROUEN UNIVERSITY HOSPITAL   (France)

^k CAEN UNIVERSITY HOSPITAL   (France)

^l PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^m Pediatric Oncology Unit University Hospital   (France)

ⁿ BP 525 74107 Annemasse Cedex F   (France)

^o HÔPITAL JEAN VERDIER   (France)

^p UNIVERSITY HOSPITAL OF TOURS   (France)

^q Hôpital Robert Debré   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MESSENGER RNA; RAS LIKE WITHOUT CAAX 1; RAS PROTEIN; UNCLASSIFIED DRUG; RIT1 PROTEIN, HUMAN;

ACUTE LYMPHOBLASTIC LEUKEMIA; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; COMPARATIVE STUDY; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; FEMALE; GERMLINE MUTATION; GROWTH RETARDATION; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INCIDENCE; JUVENILE MYELOMONOCYTIC LEUKEMIA; LEARNING DISORDER; LEUKEMOGENESIS; MALE; MOLECULAR PATHOLOGY; NOONAN SYNDROME; POSTNATAL GROWTH; PRIORITY JOURNAL; SCHOOL CHILD; SPECIAL EDUCATION; SPEECH DELAY; ADOLESCENT; ADULT; GENETICS; MUTATION; PATHOLOGY; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; LEUKEMIA, MYELOMONOCYTIC, JUVENILE; MALE; MUTATION; NOONAN SYNDROME; PEDIGREE; PHENOTYPE; PRECURSOR CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; RAS PROTEINS;

EID: 84954357180     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.273     Document Type: Article

References (30)

1. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C 2011; 157: 83-89.
2. Hasle H. Malignant diseases in Noonan syndrome and related disorders. Horm Res 2009; 72 (Suppl 2): 8-14.
3. Kratz CP, Franke L, Peters H, et al. Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes. Br J Cancer 2015; 112: 1392-1397.
4. Bader-Meunier B, Tchernia G, Mielot F, et al. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr 1997; 130: 885-889.
5. Strullu M, Caye A, Lachenaud J, et al. Juvenile myelomonocytic leukaemia and Noonan syndrome. J Med Genet 2014; 51: 689-697.
6. Romano AA, Allanson JE, Dahlgren J, et al. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010; 126: 746-759.
7. Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet 2013; 14: 355-369.
8. Aoki Y, Niihori T, Banjo T, et al. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet 2013; 93: 173-180.
9. Flex E, Jaiswal M, Pantaleoni F, et al. Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis. Hum Mol Genet 2014; 23: 4315-4327.
10. Chen PC, Yin J, Yu HW, et al. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci USA 2014; 111: 11473-11478.
11. Yamamoto GL, Aguena M, Gos M, et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet 2015; 52: 413-421.
12. Cordeddu V, Yin JC, Gunnarsson C, et al. Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome. Hum Mutat 2015; 36: 1080-1087.
13. 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: 1029-1035.
14. Nava C, Hanna N, Michot C, 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: 763-771.
15. Bertola DR, Yamamoto GL, Almeida TF, et al. Further evidence of the importance of RIT1 in Noonan syndrome. Am J Med Genet A 2014; 164A: 2952-2957.
16. Gos M, Fahiminiya S, Poznanski J, et al. Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity. Am J Med Genet A 2014; 164: 2310-2316.
17. Shi GX, Cai W, Andres DA. Rit subfamily small GTPases: regulators in neuronal differentiation and survival. Cell Signal 2013; 25: 2060-2068.
18. Cai W, Carlson SW, Brelsfoard JM, et al. Rit GTPase signaling promotes immature hippocampal neuronal survival. J Neurosci 2012; 32: 9887-9897.
19. Berger AH, Imielinski M, Duke F, et al. Oncogenic RIT1 mutations in lung adenocarcinoma. Oncogene 2014; 33: 4418-4423.
20. Imielinski M, Berger AH, Hammerman PS, et al. Mapping the hallmarks of lung adenocarcinoma with massively parallel sequencing. Cell 2012; 150: 1107-1120.
21. Cancer Genome Atlas Research N. Comprehensive molecular profiling of lung adenocarcinoma. Nature 2014; 511: 543-550.
22. Li JT, Liu W, Kuang ZH, Zhang RH, Chen HK, Feng QS. Mutation and amplification of RIT1 gene in hepatocellular carcinoma. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2004; 21: 43-46.
23. Guo G, Sun X, Chen C, et al. Whole-genome and whole-exome sequencing of bladder cancer identifies frequent alterations in genes involved in sister chromatid cohesion and segregation. Nat Genet 2013; 45: 1459-1463.
24. Gomez-Segui I, Makishima H, Jerez A, et al. Novel recurrent mutations in the RAS-like GTP-binding gene RIT1 in myeloid malignancies. Leukemia 2013; 27: 1943-1946.
25. van der Burgt I, Berends E, Lommen E, van BS, Hamel B, Mariman E. Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 1994; 53: 187-191.
26. Sarkozy AD, Marino MC, dallapicola B. Genotype-phenotype correlations in Noonan syndrome; in. Zenker M (ed): Noonan Syndrome and Related Disorders. Basel: Karger, 2009, Vol 17, pp 40-54.
27. Lee CH, Della NG, Chew CE, Zack DJ. Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins. J Neurosci 1996; 16: 6784-6794.
28. Beneteau C, Cave H, Moncla A, et al. SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions. Eur J Hum Genet 2009; 17: 1216-1221.
29. Bader-Meunier B, Cave H, Jeremiah N, et al. Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus?. Case report and systematic review of the literature. Semin Arthritis Rheum 2013; 43: 217-219.
30. Rusyn EV, Reynolds ER, Shao H, et al. Rit, a non-lipid-modified Ras-related protein, transforms NIH3T3 cells without activating the ERK, JNK, p38 MAPK or PI3K/Akt pathways. Oncogene 2000; 19: 4685-4694.