Imprinted anomalies in fetal and childhood growth disorders: The model of russell-silver and beckwith-wiedemann syndromes

Developmental Biology of GH Secretion, Growth and Treatment

Volumn 23, Issue , 2012, Pages 60-70

  Netchine, Irène ^a   Rossignol, Sylvie ^a   Azzi, Salah ^a   Brioude, Fréderic ^a   Bouc, Yves L ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84871945732     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1159/000341750     Document Type: Chapter

References (35)

1. Gicquel C, El-Osta A, Le Bouc Y: Epigenetic regulation and fetal programming. Best Pract Res Clin Endocrinol Metab 2008;22:1-16.
2. Rahman N: Mechanisms predisposing to childhood overgrowth and cancer. Curr Opin Genet Dev 2005; 15:227-233.
3. Lewis A, Reik W: How imprinting centres work. Cytogenet Genome Res 2006;113:81-89.
4. Morgan HD, Santos F, Green K, et al: Epigenetic reprogramming in mammals. Hum Mol Genet 2005;14:R47-R58.
5. Surani MA, Hayashi K, Hajkova P: Genetic and epigenetic regulators of pluripotency. Cell 2007;128: 747-762.
6. Thorvaldsen JL, Fedoriw AM, Nguyen S, et al: Developmental profile of H19 differentially methylated domain (DMD) deletion alleles reveals multiple roles of the DMD in regulating allelic expression and DNA methylation at the imprinted H19/IGF-2 locus. Mol Cell Biol 2006;26:1245-1258.
7. Tang WY, Ho SM: Epigenetic reprogramming and imprinting in origins of disease. Rev Endocr Metab Disord 2007;8:173-182.
8. Jirtle RL, Skinner MK: Environmental epigenomics and disease susceptibility. Nat Rev Genet 2007;8: 253-262.
9. 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 KCN1OT gene. Am J Hum Genet 2003;72:1338-1341.
10. Robertson KD: DNA methylation and human disease. Nat Rev Genet 2005;6:597-610.
11. Gicquel C, Rossignol S, Cabrol S, et al: Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 2005;37:1003-1007.
12. 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 epigeneticphenotypic correlations. J Clin Endocrinol Metab 2007;92:3148-3154.
13. 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. Eur J Hum Genet 2001;9:409-418.
14. Silver HK, Kiyasu W, George J, et al: Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953;12:368-376.
15. Russell A: A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 1954;47:1040-1044.
16. Price SM, Stanhope R, Garrett C, et al: The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999;36:837-842.
17. Bartholdi D, Krajewska-Walasek M, Ounap K, et al: Epigenetic mutations of the imprinted IGF-2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRSlike phenotypes. J Med Genet 2009;46:192-197.
18. Bruce S, Hannula-Jouppi K, Peltonen J, et al: Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies. J Clin Endocrinol Metab 2009;94:579-587.
19. Wakeling EL, Amero SA, Alders M, et al: Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet 2010;47:760-768.
20. Binder G, Begemann M, Eggermann T, et al: Silver-Russell syndrome. Best Pract Res Clin Endocrinol Metab 2011;25:153-160.
21. Anderson J, Viskochil D, O'Gorman M, et al: Gastrointestinal complications of Russell-Silver syndrome: a pilot study. Am J Med Genet 2002;113: 15-19.
22. Preece MA: The genetics of the Silver-Russell syndrome. Rev Endocr Metab Disord 2002;3:369-379.
23. Azzi S, Steunou V, Rousseau A, et al: Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell-Silver and Beckwith-Wiedemann syndromes. Hum Mutat 2011;32:249-258.
24. Guettard E, Portnoi MF, Lohmann-Hedrich K, et al: Myoclonus-dystonia due to maternal uniparental disomy. Arch Neurol 2008;65:1380-1385.
25. A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 2001;69:570-581.
26. Gicquel C, Rossignol S, Le Bouc Y: Beckwith-Wiedemann syndrome. Orphanet Encyclopedia 2005 (http://www.orpha.net/data/patho/GB/uk-BWS05.pdf).
27. Cooper WN, Luharia A, Evans GA, et al: Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet 2005;13: 1025-1032.
28. 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. J Med Genet 2006;43:902-907.
29. Mackay DJ, Boonen SE, Clayton-Smith J, et al: A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. Hum Genet 2006;120:262-269.
30. Azzi S, Rossignol S, Steunou V, et al: Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell-Silver and Beckwith-Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. Hum Mol Genet 2009;18: 4724-4733.
31. Azzi S, Rossignol S, Le Bouc Y, et al: Lessons from imprinted multilocus loss of methylation in human syndromes: a step toward understanding the mechanisms underlying these complex diseases. Epigenetics 2010;5:373-377.
32. Amor DJ, Halliday J: A review of known imprinting syndromes and their association with assisted reproduction technologies. Hum Reprod 2008;23: 2826-2834.
33. Demars J, Gicquel C: Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes. Clin Genet 2012;81:350-361.
34. Demars J, Rossignol S, Netchine I, et al: New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. Hum Mutat 2011;32:1171-1182.
35. Demars J, Shmela ME, Rossignol S, et al: Analysis of the IGF-2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders. Hum Mol Genet 2010;19: 803-814.