Review and update of SPRED1 mutations causing legius syndrome

Human Mutation

Volumn 33, Issue 11, 2012, Pages 1538-1546

  Brems, Hilde ^a   Pasmant, Eric ^b,c   Van Minkelen, Rick ^d   Wimmer, Katharina ^e   Upadhyaya, Meena ^f   Legius, Eric ^a   Messiaen, Ludwine ^a,g  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b INSERM   (France)

^c BEAUJON HOSPITAL   (France)

^d ERASMUS MEDICAL CENTER   (Netherlands)

^e INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^f CARDIFF UNIVERSITY   (United Kingdom)

^g UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

Author keywords

Legius syndrome; NF1; RAS MAPK; RASopathy; SPRED1

Indexed keywords

ARTICLE; CLINICAL FEATURE; CODON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GENETIC DATABASE; HUMAN; INTERNET; LEGIUS SYNDROME; MISSENSE MUTATION; NEUROFIBROMATOSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPRED1 GENE; SYNDROME DELINEATION;

ANIMALS; CAFE-AU-LAIT SPOTS; DATABASES, GENETIC; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MAP KINASE SIGNALING SYSTEM; MEMBRANE PROTEINS; MICE; MICE, KNOCKOUT; MUTATION; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; REPRESSOR PROTEINS;

EID: 84867453482     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22152     Document Type: Article

References (48)

1. Batz C, Hasle H, Bergsträsser E, van den Heuvel-Eibrink MM, Zecca M, Niemeyer CM, Flotho C; European Working Group of Myelodysplastic Syndromes in Childhood (EWOG-MDS). 2010. Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)? Blood 115:2557-2558.
2. Brems H, Beert E, de Ravel T, Legius E. 2009. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1. Lancet Oncol 10:508-515.
3. 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, Leqius E. 2007. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 39:1120-1126.
4. Bundschu K, Walter U, Schuh K. 2007. Getting a first clue about SPRED functions. Bioessays 29:897-907.
5. Chen CP, Lin SP, Tsai FJ, Chern SR, Lee CC, Wang W. 2008. A 5.6-Mb deletion in 15q14 in a boy with speech and language disorder, cleft palate, epilepsy, a ventricular septal defect, mental retardation and developmental delay. Eur J Med Genet 51:368-372.
6. Cichowski K, Jacks T. 2001. NF1 tumor suppressor gene function: narrowing the GAP. Cell 104:593-604.
7. Cui Y, Costa RM, Murphy GG, Elgersma Y, Zhu Y, Gutmann DH, Parada LF, Mody I, Silva AJ. 2008. Neurofibromin regulation of ERK signaling modulates GABA release and learning. Cell 135:549-560.
8. 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. 2008. Spred1 is required for synaptic plasticity and hippocampus-dependent learning. J Neurosci 28:14443-14449.
9. 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, et al. 2011a. Legius syndrome in fourteen families. Hum Mutat 32:E1985-E1988.
10. Denayer E, Descheemaeker MJ, Stewart DR, Keymolen K, Plasschaert E, Ruppert SL, Snow J, Thurm AE, Joseph LA, Fryns JP, Legius E. 2011b. Observations on intelligence and behavior in 15 patients with Legius syndrome. Am J Med Genet C Semin Med Genet 157:123-128.
11. Engelhardt CM, Bundschu K, Messerschmitt M, Renné T, Walter U, Reinhard M, Schuh K. 2004. Expression and subcellular localization of Spred proteins in mouse and human tissues. Histochem Cell Biol 122:527-538.
12. Erdogan F, Ullmann R, Chen W, Schubert M, Adolph S, Hultschig C, Kalscheuer V, Ropers HH, Spaich C, Tzschach A. 2007. Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delay. Am J Med Genet A 143:172-178.
13. Harmer NJ, Sivak JM, Amaya E, Blundell TL. 2005. 1.15 A crystal structure of the X. tropicalis Spred1 EVH1 domain suggests a fourth distinct peptide-binding mechanism within the EVH1 family. FEBS Lett 579:1161-1166.
14. Hollander JA, Im HI, Amelio AL, Kocerha J, Bali P, Lu Q, Willoughby D, Wahlestedt C, Conkright MD, Kenny PJ. 2010. Striatal microRNA controls cocaine intake through CREB signalling. Nature 466:197-202.
15. Huson SM, Compston DA, Clark P, Harper PS. 1989. A genetic study of von Recklinghausen neurofibromatosis in South East Wales I: prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 26:704-11.
16. Inoue H, Kato R, Fukuyama S, Nonami A, Taniguchi K, Matsumoto K, Nakano T, Tsuda M, Matsumura M, Kubo M, Ishikawa F, Moon BG, Takatsu K, Nakanishi Y, Yoshimura A. 2005. Spred-1 negatively regulates allergen-induced airway eosinophilia and hyperresponsiveness. J Exp Med 201:73-82.
17. Ishizaki T, Tamiya T, Taniguchi K, Morita R, Kato R, Okamoto F, Saeki K, Nomura M, Nojima Y, Yoshimura A. 2011. miR126 positively regulates mast cell proliferation and cytokine production through suppressing Spred1. Genes Cells 16:803-814.
18. Johne C, Matenia D, Li XY, Timm T, Balusamy K, Mandelkow EM. 2008. Spred1 and TESK1-two new interaction partners of the kinase MARKK/TAO1 that link the microtubule and actin cytoskeleton. Mol Biol Cell 19:1391-1403.
19. Kato R, Nonami A, Taketomi T, Wakioka T, Kuroiwa A, Matsuda Y, Yoshimura A. 2003. Molecular cloning of mammalian Spred-3 which suppresses tyrosine kinase-mediated Erk activation. Biochem Biophys Res Commun 302:767-772.
20. 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. 2011. Identification of five novel SPRED1 germline mutations in Legius syndrome. Clin Genet 80:93-96.
21. Li D, Jackson RA, Yusoff P, Guy GR. 2010. Direct association of Sprouty-related protein with an EVH1 domain (SPRED) 1 or SPRED2 with DYRK1A modifies substrate/kinase interactions. J Biol Chem 285:35374-35385.
22. Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L. 2007. Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1. Am J Hum Genet 81:243-251.
23. 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, et al. 2009. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA 302:2111-2118.
24. Muram-Zborovski TM, Stevenson DA, Viskochil DH, Dries DC, Wilson AR, Mao R. 2010. SPRED1 mutations in a neurofibromatosis clinic. J Child Neurol 25:1203-1209.
25. Miyoshi K, Wakioka T, Nishinakamura H, Kamio M, Yang L, Inoue M, Hasegawa M, Yonemitsu Y, Komiya S, Yoshimura A. 2004. The Sprouty-related protein, Spred, inhibits cell motility, metastasis, and Rho-mediated actin reorganization. Oncogene 23:5567-5576.
26. Niemeyer CM, Kang MW, Shin DH, Furlan I, Erlacher M, Bunin NJ, Bunda S, Finklestein JZ, Sakamoto KM, Gorr TA, Mehta P, Schmid I, et al. 2010.Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia. Nat Genet 42:794-800.
27. Nonami A, Kato R, Taniguchi K, Yoshiga D, Taketomi T, Fukuyama S, Harada M, Sasaki A, Yoshimura A. 2004. Spred-1 negatively regulates interleukin-3-mediated ERK/mitogen-activated protein (MAP) kinase activation in hematopoietic cells. J Biol Chem 279:52543-52551.
28. Nonami A, Taketomi T, Kimura A, Saeki K, Takaki H, Sanada T, Taniguchi K, Harada M, Kato R, Yoshimura A. 2005. The Sprouty-related protein, Spred-1, localizes in a lipid raft/caveola and inhibits ERK activation in collaboration with caveolin-1. Genes Cells 10:887-895.
29. Pasmant E, Ballerini P, Lapillonne H, Perot C, Vidaud D, Leverger G, Landman-Parker J. 2009b. SPRED1 disorder and predisposition to leukemia in children. Blood 114:1131.
30. Pasmant E, Sabbagh A, Hanna N, Masliah-Planchon J, Jolly E, Goussard P, Ballerini P, Cartault F, Barbarot S, Landman-Parker J, Soufir N, Parfait B, et al. 2009a. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet 46:425-430.
31. Phoenix TN, Temple S. 2010. Spred1, a negative regulator of Ras-MAPK-ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure. Genes Dev 24:45-56.
32. Pérez B, Mechinaud F, Galambrun C, Ben Romdhane N, Isidor B, Philip N, Derain-Court J, Cassinat B, Lachenaud J, Kaltenbach S, Salmon A, Désirée C, et al. 2010. Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia. J Med Genet 47:686-691.
33. Quintanar-Audelo M, Yusoff P, Sinniah S, Chandramouli S, Guy GR. 2011. 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 286:23102-23112.
34. Schwartz S, Max SR, Panny SR, Cohen MM. 1985. Deletions of proximal 15q and non-classical Prader-Willi syndrome phenotypes. Am J Med Genet 20:255-263.
35. Shmueli O, Horn-Saban S, Chalifa-Caspi V, Shmoish M, Ophir R, Benjamin-Rodrig H, Safran M, Domany E, Lancet D. 2003. GeneNote: whole genome expression profiles in normal human tissues. Comptes Rendus Biologies 326:1067-1072.
36. 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. 2011. Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR. Am J Med Genet A 155A:1352-1359.
37. Spurlock G, Bennett E, Chuzhanova N, Thomas N, Jim HP, Side L, Davies S, Haan E, Kerr B, Huson SM, Upadhyaya M. 2009. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet 46:431-437.
38. Stevenson D, Viskochil D. 2009. Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas. JAMA 302:2150-2151.
39. Stumpf DA, Alksne JF, Annegers JF, et al. 1988. Neurofibromatosis conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 45:575-578.
40. Upadhyaya M. 2008. 13th Annual European Neurofibromatosis Meeting in Killarney, Ireland.
41. Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA, White R, O'Connell P. 1990. Deletions and a translocation interrupt a cloned gene at the Neurofibromatosis type 1 locus. Cell 62:187-192.
42. Wakioka T, Sasaki A, Kato R, Shouda T, Matsumoto A, Miyoshi K, Tsuneoka M, Komiya S, Baron R, Yoshimura A. 2001. Spred is a Sprouty-related suppressor of Ras signalling. Nature 412:647-651.
43. Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL, Brownstein BH, Collins FS. 1990. Type 1 neurofibromatosis gene: isolation of a large transcript disrupted in three NF1 patients. Science 249:181-186.
44. Wang S, Aurora AB, Johnson BA, Qi X, McAnally J, Hill JA, Richardson JA, Bassel-Duby R, Olson EN. 2008. The endothelial-specific microRNA miR-126 governs vascular integrity and angiogenesis. Dev Cell 15:261-271.
45. 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. 2005. Genome-wide midrange transcription profiles reveal expression level relationships in human tissue specification. Bioinformatics 21:650-659.
46. Yoshida T, Hisamoto T, Akiba J, Koga H, Nakamura K, Tokunaga Y, Hanada S, Kumemura H, Maeyama M, Harada M, Ogata H, Yano H, et al. 2006. Spreds, inhibitors of the Ras/ERK signal transduction, are dysregulated in human hepatocellular carcinoma and linked to the malignant phenotype of tumors. Oncogene 25:6056-6066.
47. Zenker M. 2011. Clinical manifestations of mutations in RAS and related intracellular signal transduction factors. Curr Opin Pediatr 23:443-451.
48. Zhuang L, Villiger P, Trueb B. 2011. Interaction of the receptor FGFRL1 with the negative regulator Spred1. Cell Signal 23:1496-1504.