Best Practice & Research Clinical Endocrinology & Metabolism
Volume 22, Issue 3 , Pages 403-414 , June 2008

Epigenetics in Silver-Russell syndrome

References 

  1. Silver HK, Kiyasu W, George J, et al. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics. 1953;12:368–376
  2. Russell A. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proceedings of the Royal Society of Medicine. 1954;47:1040–1044
  3. Escobar V, Gleiser S, Weaver DD. Phenotypic and genetic analysis of the Silver-Russell syndrome. Clinical Genetics. 1978;13:278–288
  4. Price SM, Stanhope R, Garrett C, et al. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. Journal of Medical Genetics. 1999;36:837–842
  5. Anderson J, Viskochil D, O'Gorman M, et al. Gastrointestinal complications of Russell-Silver syndrome: a pilot study. American Journal of Medical Genetics. 2002;113:15–19
  6. Preece MA. The genetics of the Silver-Russell syndrome. Reviews in Endocrine & Metabolic Disorders. 2002;3:369–379
  7. Reik W. Stability and flexibility of epigenetic gene regulation in mammalian development. Nature. 2007;447:425–432
  8. Rakyan VK, Preis J, Morgan HD, et al. The marks, mechanisms and memory of epigenetic states in mammals. Biochemical Journal. 2001;356:1–10
  9. Robertson KD. DNA methylation and human disease. Nature Reviews. Genetics. 2005;6:597–610
  10. Bird AP. CpG-rich islands and the function of DNA methylation. Nature. 1986;321:209–213
  11. Jaenisch R, Bird A. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nature Genetics. 2003;33(Suppl.):245–254
  12. Wassenegger M. The role of the RNAi machinery in heterochromatin formation. Cell. 2005;122:13–16
  13. McGrath J, Solter D. Inability of mouse blastomere nuclei transferred to enucleated zygotes to support development in vitro. Science. 1984;226:1317–1319
  14. Surani MA, Barton SC, Norris ML. Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis. Nature. 1984;308:548–550
  15. Cattanach BM, Kirk M. Differential activity of maternally and paternally derived chromosome regions in mice. Nature. 1985;315:496–498
  16. Nicholls RD, Saitoh S, Horsthemke B. Imprinting in Prader-Willi and Angelman syndromes. Trends in Genetics. 1998;14:194–200
  17. Spahn L, Barlow DP. An ice pattern crystallizes. Nature Genetics. 2003;35:11–12
  18. Weksberg R, Smith AC, Squire J, et al. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Human Molecular Genetics. 2003;12:R61–R68
  19. Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nature Reviews. Genetics. 2001;2:21–32
  20. Fitzpatrick GV, Soloway PD, Higgins MJ. Regional loss of imprinting and growth deficiency in mice with a targeted deletion of kvDMR1. Nature Genetics. 2002;32:426–431
  21. Brandeis M, Kafri T, Ariel M, et al. The ontogeny of allele-specific methylation associated with imprinted genes in the mouse. The EMBO Journal. 1993;12:3669–3677
  22. Lucifero D, Mann MR, Bartolomei MS, et al. Gene-specific timing and epigenetic memory in oocyte imprinting. Human Molecular Genetics. 2004;13:839–849
  23. Morgan HD, Santos F, Green K, et al. Epigenetic reprogramming in mammals. Human Molecular Genetics. 2005;14:R47–R58
  24. Bestor TH. The DNA methyltransferases of mammals. Human Molecular Genetics. 2000;9:2395–2402
  25. Loukinov DI, Pugacheva E, Vatolin S, et al. Boris, a novel male germ-line-specific protein associated with epigenetic reprogramming events, shares the same 11-zinc-finger domain with ctcf, the insulator protein involved in reading imprinting marks in the soma. Proceedings of the National Academy of Sciences of the United States of America. 2002;99:6806–6811
  26. Nakamura T, Arai Y, Umehara H, et al. Pgc7/stella protects against DNA demethylation in early embryogenesis. Nature Cell Biology. 2007;9:64–71
  27. Tycko B, Morison IM. Physiological functions of imprinted genes. Journal of Cellular Physiology. 2002;192:245–258
  28. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. BioEssays. 2000;22:452–459
  29. Spence JE, Perciaccante RG, Greig GM, et al. Uniparental disomy as a mechanism for human genetic disease. American Journal of Human Genetics. 1988;42:217–226
  30. Spiro RP, Christian SL, Ledbetter DH, et al. Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia. Pediatric Research. 1999;46:510–513
  31. Kotzot D, Utermann G. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. American Journal of Medical Genetics. Part A. 2005;136:287–305
  32. Monk D, Bentley L, Hitchins M, et al. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. Human Genetics. 2002;111:376–387
  33. Schinzel AA, Robinson WP, Binkert F, et al. An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. Clinical Dysmorphology. 1994;3:63–69
  34. Fisher AM, Thomas NS, Cockwell A, et al. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Human Genetics. 2002;111:290–296
  35. Eggermann T, Meyer E, Obermann C, et al. Is maternal duplication of 11p15 associated with Silver-Russell syndrome?. Journal of Medical Genetics. 2005;42:e26
  36. Wilson GN, Sauder SE, Bush M, Beitins IZ. Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes. Journal of Medical Genetics. 1985;22:233–236
  37. Tamura T, Tohma T, Ohta T, et al. Ring chromosome 15 involving deletion of the insulin-like growth factor 1 receptor gene in a patient with features of Silver-Russell syndrome. Clinical Dysmorphology. 1993;2:106–113
  38. Rogan PK, Seip JR, Driscoll DJ, et al. Distinct 15q genotypes in Russell-Silver and ring 15 syndromes. American Journal of Medical Genetics. 1996;62:10–15
  39. Ramirez-Duenas ML, Medina C, Ocampo-Campos R, et al. Severe Silver-Russell syndrome and translocation (17; 20) (q25; q13). Clinical Genetics. 1992;41:51–53
  40. Dorr S, Midro AT, Farber C, et al. Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24. Genomics. 2001;71:174–181
  41. Eggermann T, Eggermann K, Mergenthaler S, et al. Paternally inherited deletion of csh1 in a patient with Silver-Russell syndrome. Journal of Medical Genetics. 1998;35:784–786
  42. Chauvel PJ, Moore CM, Haslam RH. Trisomy-18 mosaicism with features of Russell-Silver syndrome. Developmental Medicine and Child Neurology. 1975;17:220–224
  43. Christensen MF, Nielsen J. Deletion short arm 18 and Silver-Russell syndrome. Acta Paediatrica Scandinavica. 1978;67:101–103
  44. Duncan PA, Hall JG, Shapiro LR, et al. Three-generation dominant transmission of the Silver-Russell syndrome. American Journal of Medical Genetics. 1990;35:245–250
  45. Preece MA, Price SM, Davies V, et al. Maternal uniparental disomy 7 in Silver-Russell syndrome. Journal of Medical Genetics. 1997;34:6–9
  46. Eggermann T, Wollmann HA, Kuner R, et al. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. Human Genetics. 1997;100:415–419
  47. Kotzot D, Balmer D, Baumer A, et al. Maternal uniparental disomy 7: review and further delineation of the phenotype. European Journal of Pediatrics. 2000;159:247–256
  48. Preece MA, Abu-Amero SN, Ali Z, et al. An analysis of the distribution of hetero- and isodisomic regions of chromosome 7 in five mupd7 Silver-Russell syndrome probands. Journal of Medical Genetics. 1999;36:457–460
  49. Kalousek DK, Langlois S, Robinson WP, et al. Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases. American Journal of Medical Genetics. 1996;65:348–352
  50. Hitchins MP, Stanier P, Preece MA, Moore GE. Silver-Russell syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. Journal of Medical Genetics. 2001;38:810–819
  51. Joyce CA, Sharp A, Walker JM, et al. Duplication of 7p12.1–p13, including GRB10 and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. Human Genetics. 1999;105:273–280
  52. Monk D, Wakeling EL, Proud V, et al. Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. American Journal of Human Genetics. 2000;66:36–46
  53. Stein EG, Gustafson TA, Hubbard SR. The BPS domain of Grb10 inhibits the catalytic activity of the insulin and Igf1 receptors. FEBS Letters. 2001;493:106–111
  54. Wang J, Dai H, Yousaf N, et al. Grb10, a positive, stimulatory signaling adapter in platelet-derived growth factor bb-, insulin-like growth factor I, and insulin-mediated mitogenesis. Molecular and Cellular Biology. 1999;19:6217–6228
  55. Charalambous M, Smith FM, Bennett WR, et al. Disruption of the imprinted grb10 gene leads to disproportionate overgrowth by an igf2-independent mechanism. Proceedings of the National Academy of Sciences of the United States of America. 2003;100:8292–8297
  56. Arnaud P, Monk D, Hitchins M, et al. Conserved methylation imprints in the human and mouse grb10 genes with divergent allelic expression suggests differential reading of the same mark. Human Molecular Genetics. 2003;12:1005–1019
  57. Riegel M, Baumer A, Schinzel A. No evidence of submicroscopic deletion or segmental uniparental disomy within the candidate regions 7p11.2-p13 and 7q31-qter in a series of non-uniparental disomy Silver-Russell syndrome cases. Clinical Genetics. 2003;64:252–254
  58. Hitchins MP, Monk D, Bell GM, et al. Maternal repression of the human GRB10 gene in the developing central nervous system; evaluation of the role for GRB10 in Silver-Russell syndrome. European Journal of Human Genetics. 2001;9:82–90
  59. Yoshihashi H, Maeyama K, Kosaki R, et al. Imprinting of human GRB10 and its mutations in two patients with Russell-Silver syndrome. American Journal of Human Genetics. 2000;67:476–482
  60. Hannula K, Lipsanen-Nyman M, Kontiokari T, et al. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. American Journal of Human Genetics. 2001;68:247–253
  61. Lefebvre L, Viville S, Barton SC, et al. Abnormal maternal behaviour and growth retardation associated with loss of the imprinted gene Mest. Nature Genetics. 1998;20:163–169
  62. Riesewijk AM, Blagitko N, Schinzel AA, et al. Evidence against a major role of PEG1/MEST in Silver-Russell syndrome. European Journal of Human Genetics. 1998;6:114–120
  63. Kobayashi S, Uemura H, Kohda T, et al. No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. American Journal of Medical Genetics. 2001;104:225–231
  64. Bentley L, Nakabayashi K, Monk D, et al. The imprinted region on human chromosome 7q32 extends to the carboxypeptidase a gene cluster: an imprinted candidate for Silver-Russell syndrome. Journal of Medical Genetics. 2003;40:249–256
  65. Eggermann T, Mergenthaler S, Eggermann K, et al. Segmental uniparental disomy of 7q31-qter is rare in Silver-Russell syndrome. Clinical Genetics. 2001;60:395–396
  66. Hoglund P, Holmberg C, de la Chapelle A, Kere J. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. American Journal of Human Genetics. 1994;55:747–752
  67. Pan Y, McCaskill CD, Thompson KH, et al. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. American Journal of Human Genetics. 1998;62:1551–1555
  68. Fares F, David M, Lerner A, et al. Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth. American Journal of Medical Genetics. Part A. 2006;140:1785–1788
  69. DeChiara TM, Efstratiadis A, Robertson EJ. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. Nature. 1990;345:78–80
  70. Leighton PA, Ingram RS, Eggenschwiler J, et al. Disruption of imprinting caused by deletion of the h19 gene region in mice. Nature. 1995;375:34–39
  71. Sun FL, Dean WL, Kelsey G, et al. Transactivation of igf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature. 1997;389:809–815
  72. Reik W, Brown KW, Schneid H, et al. Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain. Human Molecular Genetics. 1995;4:2379–2385
  73. Schneid H, Seurin D, Vazquez MP, et al. Parental allele specific methylation of the human insulin-like growth factor II gene and Beckwith-Wiedemann syndrome. Journal of Medical Genetics. 1993;30:353–362
  74. Gaston V, Le Bouc Y, Soupre V, et al. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. European Journal of Human Genetics. 2001;9:409–418
  75. Obermann C, Meyer E, Prager S, et al. Searching for genomic variants in IGF2 and CKN1C in Silver-Russell syndrome patients. Molecular Genetics and Metabolism. 2004;82:246–250
  76. Meyer E, Eggermann T, Wollmann HA. Analysis of genomic variants in the KCNQ1OT1 transcript in Silver-Russell syndrome patients. Molecular Genetics and Metabolism. 2005;84:376–377
  77. Gicquel C, Rossignol S, Cabrol S, et al. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nature Genetics. 2005;37:1003–1007
  78. Bell AC, Felsenfeld G. Methylation of a CTCF-dependent boundary controls imprinted expression of the igf2 gene. Nature. 2000;405:482–485
  79. Hark AT, Schoenherr CJ, Katz DJ, et al. CTCF mediates methylation-sensitive enhancer-blocking activity at the h19/igf2 locus. Nature. 2000;405:486–489
  80. Bliek J, Terhal P, van den Bogaard MJ, et al. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. American Journal of Human Genetics. 2006;78:604–614
  81. Eggermann T, Schonherr N, Meyer E, et al. Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. Journal of Medical Genetics. 2006;43:615–616
  82. Schonherr N, Meyer E, Eggermann K, et al. (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation?. European Journal of Medical genetics. 2006;49:414–418
  83. Binder G, Seidel AK, Weber K, et al. IGF-II serum levels are normal in children with Silver-Russell syndrome who frequently carry epimutations at the IGF2 locus. The Journal of Clinical Endocrinology and Metabolism. 2006;91:4709–4712
  84. Netchine I, Rossignol S, Dufourg MN, et al. 11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations. The Journal of Clinical Endocrinology and Metabolism. 2007;92:3148–3154
  85. Usher R, McLean F. Intrauterine growth of live-born caucasian infants at sea level: standards obtained from measurements in 7 dimensions of infants born between 25 and 44 weeks of gestation. The Journal of Pediatrics. 1969;74:901–910
  86. Sempé MPG, Roy-Penot M. Auxologie, méthode et séquences. Paris: Theraplix; 1979;
  87. Rolland-Cachera MF, Cole TJ, Sempe M, et al. Body mass index variations: centiles from birth to 87 years. European Journal of Clinical Nutrition. 1991;45:13–21
  88. Hannula K, Lipsanen-Nyman M, Kristo P, et al. Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause. Pediatrics. 2002;109:441–448
  89. Van Dijk MA, Rodenburg RJ, Holthuizen P, et al. The liver-specific promoter of the human insulin-like growth factor II gene is activated by CAAT/enhancer binding protein (C/EBP). Nucleic Acids Research. 1992;20:3099–3104
  90. Ohlsson R, Nystrom A, Pfeifer-Ohlsson S, et al. IGF2 is parentally imprinted during human embryogenesis and in the Beckwith-Wiedemann syndrome. Nature Genetics. 1993;4:94–97
  91. Wu HK, Squire JA, Song Q, Weksberg R. Promoter-dependent tissue-specific expressive nature of imprinting gene, insulin-like growth factor II, in human tissues. Biochemical and Biophysical Research. 1997;233:221–226
  92. Vu TH, Hoffman AR. Promoter-specific imprinting of the human insulin-like growth factor-II gene. Nature. 1994;371:714–717
  93. Schonherr N, Meyer E, Roos A, et al. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. Journal of Medical Genetics. 2007;44:59–63
  94. Weksberg R, Shuman C, Caluseriu O, et al. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. Human Molecular Genetics. 2002;11:1317–1325
  95. Gicquel C, Gaston V, Mandelbaum J, et al. In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCNQ1OT gene. American Journal of Human Genetics. 2003;72:1338–1341
  96. Rossignol S, Steunou V, Chalas C, et al. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. Journal of Medical Genetics. 2006;43:902–907
  97. Mackay DJ, Boonen SE, Clayton-Smith J, et al. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Human Genetics. 2006;120:262–269
  98. Svensson J, Bjornstahl A, Ivarsson SA. Increased risk of Silver-Russell syndrome after in vitro fertilization?. Acta Paediatrica. 2005;94:1163–1165

PII: S1521-690X(08)00013-4

doi: 10.1016/j.beem.2008.01.012

Best Practice & Research Clinical Endocrinology & Metabolism
Volume 22, Issue 3 , Pages 403-414 , June 2008