Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

Journal of Medical Genetics

Volumn 52, Issue 6, 2015, Pages 413-421

  Yamamoto, Guilherme Lopes ^a   Aguena, Meire ^a   Gos, Monika ^b   Hung, Christina ^c   Pilch, Jacek ^d   Fahiminiya, Somayyeh ^e   Abramowicz, Anna ^b   Cristian, Ingrid ^f   Buscarilli, Michelle ^a   Naslavsky, Michel Satya ^a   Malaquias, Alexsandra C ^a   Zatz, Mayana ^a   Bodamer, Olaf ^c   Majewski, Jacek ^e   Jorge, Alexander A L ^a   Pereira, Alexandre C ^a   Kim, Chong Ae ^a   Passos Bueno, Maria Rita ^a   Bertola, Débora Romeo ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTE OF MOTHER AND CHILD   (Poland)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d MEDICAL UNIVERSITY OF SILESIA   (Poland)

^e MCGILL UNIVERSITY   (Canada)

^f NEMOURS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; AMERICAN; ARTICLE; BRAZILIAN; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; FEMALE; GENE; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; LZTR1 GENE; MALE; MISSENSE MUTATION; NOONAN SYNDROME; POLAND; POLISH CITIZEN; PRIORITY JOURNAL; SOS2 GENE; UNITED STATES; COHORT ANALYSIS; FACIES; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; METABOLISM; PEDIGREE; PHENOTYPE; SIGNAL TRANSDUCTION;

LZTR1 PROTEIN, HUMAN; MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN; SOS PROTEIN; SOS2 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

COHORT STUDIES; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HUMANS; MALE; MITOGEN-ACTIVATED PROTEIN KINASES; NOONAN SYNDROME; PEDIGREE; PHENOTYPE; RAS PROTEINS; SIGNAL TRANSDUCTION; SON OF SEVENLESS PROTEINS; TRANSCRIPTION FACTORS;

EID: 84930622528     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2015-103018     Document Type: Article

References (27)

1. Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME, Roberts AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics 2010;12:746-59.
2. Tartaglia M, Zampino G, Gelb BD. Noonan syndrome: clinical aspects and molecular pathogenesis. Mol Syndromol 2010;1:2-26.
3. Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 2009;19:230-6.
4. Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue S, Watanabe Y, Ogura T, Matsubara Y. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome. Am J Hum Genet 2013;93:173-80.
5. Chen PC, Yin J, Yu HW, Yuan T, Fernandez M, Yung CK, Trinh QM, Peltekova VD, Reid JG, Tworog-Dube E, Morgan MB, Muzny DM, Stein L, McPherson JD, Roberts AE, Gibbs RA, Neel BG, Kucherlapati R. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci USA 2014;111:11473-8.
6. Bertola DR, Pereira AC, Albano LM, De Oliveira PS, Kim CA, Krieger JE. PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. Genet Test 2006;10:186-91.
7. Brasil AS, Pereira AC, Wanderley LT, Kim CA, Malaquias AC, Jorge AA, Krieger JE, Bertola DR. PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. Genet Test Mol Biomarkers 2010;14:425-32.
8. 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.
9. Bertola DR, Yamamoto GL, Almeida TF, Buscarilli M, Jorge AA, Malaquias AC, Kim CA, Takahashi VN, Passos-Bueno MR, Pereira AC. Further evidence of the importance of RIT1 in Noonan syndrome. Am J Med Genet A 2014;164A:2952-7.
10. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009;25:1754-60.
11. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research 2010;20:1297-303.
12. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Research 2010;38:e164.
13. Pierre S, Bats AS, Coumoul X. Understanding SOS (Son of Sevenless). Biochem Pharmacol 2011;82:1049-56.
14. Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat 2011;32:760-72.
15. Zenker M, Horn D, Wieczorek D, Allanson J, Pauli S, van der Burgt I, Doerr HG, Gaspar H, Hofbeck M, Gillessen-Kaesbach G, Koch A, Meinecke P, Mundlos S, Nowka A, Rauch A, Reif S, von Schnakenburg C, Seidel H, Wehner LE, Zweier C, Bauhuber S, Matejas V, Kratz CP, Thomas C, Kutsche K. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome. J Med Genet 2007;44:651-6.
16. Kurahashi H, Akagi K, Inazawa J, Ohta T, Niikawa N, Kayatani F, Sano T, Okada S, Nishisho I. Isolation and characterization of a novel gene deleted in DiGeorge syndrome. Hum Mol Genet 1995;4:541-9.
17. Nacak TG, Leptien K, Fellner D, Augustin HG, Kroll J. The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis. J Biol Chem 2006;281:5065-71.
18. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet 2007;370:1443-52.
19. Frattini V, Trifonov V, Chan JM, Castano A, Lia M, Abate F, Keir ST, Ji AX, Zoppoli P, Niola F, Danussi C, Dolgalev I, Porrati P, Pellegatta S, Heguy A, Gupta G, Pisapia DJ, Canoll P, Bruce JN, McLendon RE, Yan H, Aldape K, Finocchiaro G, Mikkelsen T, Privé GG, Bigner DD, Lasorella A, Rabadan R, Iavarone A. The integrated landscape of driver genomic alterations in glioblastoma. Nat Genet 2013;45:1141-9.
20. Hollstei PE, Cichowski K. Identifying the Ubiquitin Ligase complex that regulates the NF1 tumor suppressor and Ras. Cancer Discov 2013;3:880-93.
21. Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet 2014;46:182-7.
22. Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson E, Hulsebos TJ, Giovannini M, Nelson SF, Papi L. Expanding the mutational spectrum of LZTR1 in schwannomatosis. Eur J Hum Genet 2014. [Epub ahead of print]
23. Hutter S, Piro RM, Reuss DE, Hovestadt V, Sahm F, Farschtschi S, Kehrer-Sawatzki H, Wolf S, Lichter P, von Deimling A, Schuhmann MU, Pfister SM, Jones DT, Mautner VF. Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants. Acta Neuropathol 2014;128:449-52.
24. Smith MJ, Isidor B, Beetz C, Williams SG, Bhaskar SS, Richer W, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Fryer A, Rustad CF, Mills SJ, Samii A, du Plessis D, Halliday D, Barbarot S, Bourdeaut F, Newman WG, Evans DG. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology 2015;84:141-7.
25. Carroll SL. Molecular mechanisms promoting the pathogenesis of Schwann cell neoplasms. Acta Neuropathol 2012;123:321-48.
26. Bertola DR, Pereira AC, Brasil AC, Suzuki L, Leite C, Falzoni R, Tannuri U, Poplawski AB, Janowski KM, Kim CA, Messiaen LM. Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? Clin Genet 2012;81:595-7.
27. Chen JL, Zhu X, Zhao TL, Wang J, Yang YF, Tan ZP. Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11. Mol Cytogenet 2014;7:28.