Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations

American Journal of Medical Genetics, Part A

Volumn 152, Issue 4, 2010, Pages 807-814

  Rauen, Katherine A ^a   Tidyman, William E ^a   Estep, Anne L ^a   Sampath, Srirangan ^b,c   Peltier, Henry M ^d   Bale, Sherri J ^e   Lacassie, Yves ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d Center for Pediatric and Adolescent Medicine   (United States)

^e GENEDX   (United States)

Author keywords

Acute lymphoblastic leukemia; Autosomal dominant; BRAF; Cardio facio cutaneous syndrome; MEK1; MEK2; Multiple generation transmission; Ras MAPK; RASopathy; Signal transduction pathway

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; RAS PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CARDIOFACIOCUTANEOUS SYNDROME; CELL STRAIN HEK293; CHILD; CLINICAL ARTICLE; ENZYME PHOSPHORYLATION; FEMALE; GENE; GENE FUNCTION; HUMAN; HUMAN CELL; MALE; MALFORMATION SYNDROME; MEK2 GENE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; SCHOOL CHILD; SIGNAL TRANSDUCTION; VERTICAL TRANSMISSION;

ABNORMALITIES, MULTIPLE; ADULT; BASE SEQUENCE; CELL LINE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FACIES; FAMILY CHARACTERISTICS; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; INHERITANCE PATTERNS; MALE; MAP KINASE KINASE 2; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PEDIGREE; PREGNANCY; SYNDROME;

EID: 77950409870     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33342     Document Type: Article

References (32)

1. Almog T, Lazar S, Reiss N, Etkovitz N, Milch E, Rahamim N, Dobkin-Bekman M, Rotem R, Kalina M, Ramon J, Raziel A, Breitbart H, Seger R, Naor Z. 2008. Identification of extracellular signal-regulated kinase 1/2 and p38 MAPK as regulators of human sperm motility and acrosome reaction and as predictors of poor spermatozoan quality. J Biol Chem 283:14479-14489.
2. 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. 2007. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet 39: 1120-1126. (Pubitemid 47340658)
3. Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M. 2009. Mutation of SHOC2 promotes aberrant protein Nmyristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 41:1022-1026.
4. de Lamirande E, Gagnon C. 2002. The extracellular signal-regulated kinase (ERK) pathway is involved in human sperm function and modulated by the superoxide anion. Mol Hum Reprod 8:124-135. (Pubitemid 34144972)
5. Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B. 2002. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 71:389-394.
6. Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M. 2003. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 73:1240-1249. (Pubitemid 38037418)
7. Estep AL, Palmer C, McCormick F, Rauen KA. 2007. Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: Implications for therapy. PLoS ONE 2:e1279.
8. Fan HY, Shimada M, Liu Z, Cahill N, Noma N, Wu Y, Gossen J, Richards JS. 2008. Selective expression of KrasG12D in granulosa cells of the mouse ovary causes defects in follicle development and ovulation. Development 135:2127-2137.
9. Fan HY, Liu Z, Shimada M, Sterneck E, Johnson PF, Hedrick SM, Richards JS. 2009. MAPK3/1 (ERK1/2) in ovarian granulosa cells are essential for female fertility. Science 324:938-941.
10. Glaser RL, Jabs EW. 2004. Dear old dad. Sci Aging Knowledge Environ. 2004 Jan 21;2004(3):re1.
11. Glaser RL, Broman KW, Schulman RL, Eskenazi B, Wyrobek AJ, Jabs EW. 2003. The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. Am J Hum Genet 73: 939-947. (Pubitemid 37271895)
12. Goriely A, Hansen RM, Taylor IB, Olesen IA, Jacobsen GK, McGowan SJ, Pfeifer SP, McVean GA, Meyts ER, Wilkie AO. 2009. Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Nat Genet 41:1247-1252.
13. Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D. 2002.Amutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. Am J Hum Genet 70:943-954. (Pubitemid 34259310)
14. Hoshino R, Chatani Y, Yamori T, Tsuruo T, Oka H, Yoshida O, Shimada Y, Ari-i S, Wada H, Fujimoto J, Kohno M. 1999. Constitutive activation of the 41-/43-kDa mitogen-activated protein kinase signaling pathway in human tumors. Oncogene 18:813-822. (Pubitemid 29080340)
15. Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP. 2002. PTPN11 mutations in LEOPARD syndrome. J Med Genet 39:571-574.
16. Li MW, Mruk DD, Cheng CY. 2009. Mitogen-activated protein kinases in male reproductive function. Trends Mol Med 15:159-168.
17. Lu Q, Sun QY, Breitbart H, Chen DY. 1999. Expression and phosphorylation of mitogen-activated protein kinases during spermatogenesis and epididymal sperm maturation in mice. Arch Androl 43:55-66. (Pubitemid 29331083)
18. Makita Y, Narumi Y, Yoshida M, Niihori T, Kure S, Fujieda K, Matsubara Y, Aoki Y. 2007. Leukemia in Cardio-facio-cutaneous (CFC) syndrome: A patient with a germline mutation in BRAF proto-oncogene. J Pediatr Hematol Oncol 29:287-290. (Pubitemid 46707505)
19. Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y. 2006. Germline KRAS and BRAF mutations in cardiofacio-cutaneous syndrome. Nat Genet 38:294-296. (Pubitemid 43315749)
20. Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Lopez Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. 2007. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 39: 1007-1012. (Pubitemid 47185177)
21. Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, Mizuno K, Tokuyama M, Hirota H, Muneuchi J, Higashinakagawa T, Matsuoka R. 2007. Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 39:1013-1017. (Pubitemid 47185179)
22. Revencu N, Boon LM, Mulliken JB, Enjolras O, Cordisco MR, Burrows PE, Clapuyt P, Hammer F, Dubois J, Baselga E, Brancati F, Carder R, Quintal JM, Dallapiccola B, Fischer G, Frieden IJ, Garzon M, Harper J, Johnson-Patel J, Labreze C, Martorell L, Paltiel HJ, Pohl A, Prendiville J, Quere I, Siegel DH, Valente EM, Van Hagen A, Van Hest L, Vaux KK, Vicente A, Weibel L, Chitayat D, Vikkula M. 2008. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat 29:959-965.
23. Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS. 2007. Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 39:70-74. (Pubitemid 46026503)
24. Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA. 2006. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311:1287-1290. (Pubitemid 43334718)
25. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. 2006. Germline KRAS mutations cause Noonan syndrome. Nat Genet 38: 331-336. (Pubitemid 43315756)
26. Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD. 2001. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-468. (Pubitemid 34326699)
27. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. 2007. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 39:75-79. (Pubitemid 46026504)
28. Tidyman WE, Rauen KA. 2009. The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 19:230-236.
29. Van Den Berg H, Hennekam RCM. 1999. Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome. J Med Genet 36: 799-800. (Pubitemid 29462332)
30. Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. 2009. Neurofibromatosis type 1 revisited. Pediatrics 123:124-133.
31. Yoon S, Seger R. 2006. The extracellular signal-regulated kinase: Multiple substrates regulate diverse cellular functions. Growth Factors 24: 21-44. (Pubitemid 43108774)
32. Yoon G, Rosenberg J, Blaser S, Rauen KA. 2007. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol 49: 894-899.