Legius syndrome, an update. molecular pathology of mutations in SPRED1

Keio Journal of Medicine

Volumn 62, Issue 4, 2013, Pages 107-112

  Brems, Hilde ^a   Legius, Eric ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

Caf au lait macule; Legius syndrome; Neurofbromatosis type 1; NF1; SPRED1

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN; RAS PROTEIN; SPROUTY RELATED, EVH1 DOMAIN CONTAINING 1 PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL DISORDER; CHROMOSOME 15Q; DATA BASE; DOWN REGULATION; GENE; GENE MUTATION; HUMAN; LEGIUS SYNDROME; MISSENSE MUTATION; NERVE CELL PLASTICITY; NEUROFIBROMATOSIS; NONHUMAN; PERIODIC MEDICAL EXAMINATION; PHENOTYPE; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SPROUTY RELATED, EVH1 DOMAIN CONTAINING 1 GENE;

ANIMALS; CAFE-AU-LAIT SPOTS; GENE EXPRESSION; GENE EXPRESSION REGULATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEARNING; MEMBRANE PROTEINS; MEMORY; MICE; MICE, KNOCKOUT; MITOGEN-ACTIVATED PROTEIN KINASES; MUTATION; NEUROFIBROMATOSIS 1; NEUROFIBROMIN 1; RAS GTPASE-ACTIVATING PROTEINS; SIGNAL TRANSDUCTION;

EID: 84890601727     PISSN: 00229717     EISSN: 18801293     Source Type: Journal    
DOI: 10.2302/kjm.2013-0002-RE     Document Type: Review

References (28)

1. Huson SM, Compston DA, Clark P, Harper PS: A genetic study of von Recklinghausen neurofbromatosis in south east Wales. I. Prevalence, ftness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989; 26: 704-711.
2. Brems H, Beert E, de Ravel T, Legius E: Mechanisms in the pathogenesis of malignant tumours in neurofbromatosis type 1. Lancet Oncol 2009; 10: 508-515.
3. Zenker M: Clinical manifestations of mutations in RAS and related intracellular signal transduction factors. Curr Opin Pediatr 2 011; 23: 443-451.
4. Brems H, Chmara M, Sahbatou M, Denayer E, Taniguchi K, Kato R, Somers R, Messiaen L, De Schepper S, Fryns JP, Cools J, Marynen P, Thomas G, Yoshimura A, Legius E: Germline loss-of-function mutations in SPRED1 cause a neurofbromato-sis 1-like phenotype. Nat Genet 2007; 39: 1120-1126.
5. Stevenson D, Viskochil D: Pigmentary fndings in neurofbroma-tosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas. JAMA 2009; 302: 2150-2151.
6. Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M: SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofbromatosis type 1 phenotype. J Med Genet 2009; 46: 431-437.
7. Denayer E, Chmara M, Brems H, Kievit AM, van Bever Y, Van den Ouweland AM, Van Minkelen R, de Goede-Bolder A, Oostenbrink R, Lakeman P, Beert E, Ishizaki T, Mori T, Keymo-len K, Van den Ende J, Mangold E, Peltonen S, Brice G, Rankin J, Van Spaendonck-Zwarts KY, Yoshimura A, Legius E: Legius syndrome in fourteen families. Hum Mutat 2011; 32: E1985-E1998.
8. Laycock-van Spyk S, Jim HP, Thomas L, Spurlock G, Fares L, Palmer-Smith S, Kini U, Saggar A, Patton M, Mautner V, Pilz DT, Upadhyaya M: Identification of five novel SPRED1 germline mutations in Legius syndrome. Clin Genet 2011; 80: 93-96.
9. Messiaen L, Yao S, Brems H, Callens T, Sathienkijkanchai A, Denayer E, Spencer E, Arn P, Babovic-Vuksanovic D, Bay C, Bobele G, Cohen BH, Escobar L, Eunpu D, Grebe T, Greenstein R, Hachen R, Irons M, Kronn D, Lemire E, Leppig K, Lim C, McDonald M, Narayanan V, Pearn A, Pedersen R, Powell B, Shapiro LR, Skidmore D, Tegay D, Thiese H, Zackai EH, Vijzelaar R, Taniguchi K, Ayada T, Okamoto F, Yoshimura A, Parret A, Korf B, Legius E: Clinical and mutational spectrum of neu rofbromato -sis type 1-like syndrome. JAMA 2009; 302: 2111-2118.
10. Spencer E, Davis J, Mikhail F, Fu C, Vijzelaar R, Zackai EH, Feret H, Meyn MS, Shugar A, Bellus G, Kocsis K, Kivirikko S, Pöyhönen M, Messiaen L: Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. Am J Med Genet A 2011; 155: 1352-1359.
11. Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufr N, Parfait B, Vidaud M, Wolkenstein P, Vidaud D, France RN: SPRED1 germline mutations caused a neurofbromatosis type 1 overlapping phenotype. J Med Genet 2009; 46: 425-430.
12. Pasmant E, Ballerini P, Lapillonne H, Perot C, Vidaud D, Lev-erger G, Landman-Parker J: SPRED1 disorder and predisposition to leukemia in children. Blood 2009; 114: 1131-1104.
13. Batz C, Hasle H, Bergstrasser E, van den Heuvel-Eibrink MM, Zecca M, Niemeyer CM, Flotho C: Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)? Blood 2010; 115: 2557-2558.
14. Denayer E, Descheemaeker MJ, Stewart DR, Keymolen K, Plass-chaert E, Ruppert SL, Snow J, Thurm AE, Joseph LA, Fryns JP, Legius E: Observations on intelligence and behavior in 15 patients with Legius syndrome. Am J Med Genet C Semin Med Genet 2011; 157C: 123-128.
15. Brems H, Pasmant E, Van Minkelen R, Wimmer K, Upadhyaya M, Legius E, Messiaen L: Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat 2012; 33: 1538-1546.
16. Wakioka T, Sasaki A, Kato R, Shouda T, Matsumoto A, Miyoshi K, Tsuneoka M, Komiya S, Baron R, Yoshimura A: Spred is a Sprouty-related suppressor of Ras signalling. Nature 2001; 412: 647- 651.
17. Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L: Molecular dissection of isolated disease features in mosaic neurofbromatosis type 1. Am J Hum Genet 2007; 81: 243-251.
18. Yoshimura A: Regulation of cytokine signaling by the SOCS and Spred family proteins. Keio J Med 2009; 58: 73-83.
19. Phoenix TN, Temple S: Spred1, a negative regulator of Ras-MAPK-ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure. Genes Dev 2010; 24: 45-56.
20. Shmueli O, Horn-Saban S, Chalifa-Caspi V, Shmoish M, Ophir R, Benjamin-Rodrig H, Safran M, Domany E, Lancet D: GeneNote:whole genome expression profles in normal human tissues. C R Biol 2003; 326: 1067-1072.
21. Yanai I, Benjamin H, Shmoish M, Chalifa-Caspi V, Shklar M, Ophir R, Bar-Even A, Horn-Saban S, Safran M, Domany E, Lancet D, Shmueli O: Genome-wide midrange transcription profles reveal expression level relationships in human tissue specifca-tion. Bioinformatics 2005; 21: 650-659.
22. Johne C, Matenia D, Li XY, Timm T, Balusamy K, Mandelkow EM: Spred1 and TESK1 - two new interaction partners of the kinase MARKK/TAO1 that link the microtubule and actin cyto-skeleton. Mol Biol Cell 2008; 19: 1391-1403.
23. Zhuang L, Villiger P, Trueb B: Interaction of the receptor FG-FRL1 with the negative regulator Spred1. Cell Signal 2011; 23: 1496-1504.
24. Li D, Jackson RA, Yusoff P, Guy GR: Direct association of Sprouty-related protein with an EVH1 domain (SPRED) 1 or SPRED2 with DYRK1A modifes substrate/kinase interactions. J Biol Chem 2010; 285: 35374-35385.
25. Quintanar-Audelo M, Yusoff P, Sinniah S, Chandramouli S, Guy GR: Sprouty-related Ena/vasodilator-stimulated phosphoprotein homology 1-domain-containing protein (SPRED1), a tyrosine-protein phosphatase non-receptor type 11 (SHP2) substrate in the Ras/extracellular signal-regulated kinase (ERK) pathway. J Biol Chem 2011; 286: 23102-23112.
26. Stowe IB, Mercado EL, Stowe TR, Bell EL, Oses-Prieto JA, Hernandez H, Burlingame AL, McCormick F: A shared molecular mechanism underlies the human rasopathies Legius syndrome and neurofbromatosis-1. Genes Dev 2012; 26: 1421-1426.
27. Denayer E, Ahmed T, Brems H, Van Woerden G, Borgesius NZ, Callaerts-Vegh Z, Yoshimura A, Hartmann D, Elgersma Y, D'Hooge R, Legius E, Balschun D: Spred1 is required for syn-aptic plasticity and hippocampus-dependent learning. J Neurosci 2008; 28: 14443-14449.
28. Cui Y, Costa RM, Murphy GG, Elgersma Y, Zhu Y, Gutmann DH, Parada LF, Mody I, Silva AJ: Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell 2008; 135: 549-560.