Silver-Russell syndrome: Genetic basis and molecular genetic testing

Orphanet Journal of Rare Diseases

Volumn 5, Issue 1, 2010, Pages

  Eggermann, Thomas ^a   Begemann, Matthias ^a   Binder, Gerhard ^b   Spengler, Sabrina ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH HORMONE;

CHROMOSOME 7; CHROMOSOME ABERRATION; CLINICAL FEATURE; DEMETHYLATION; EPIGENETICS; GENOTYPE; GROWTH DISORDER; GROWTH RETARDATION; HUMAN; MACROCEPHALY; MOLECULAR GENETICS; MOLECULAR IMPRINTING; PHENOTYPE; POSTNATAL GROWTH; PRENATAL PERIOD; REVIEW; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY; ALGORITHM; CHROMOSOME 11; DNA METHYLATION; GENETICS; GENOME IMPRINTING; PATHOPHYSIOLOGY; PHYSIOLOGY;

ALGORITHMS; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 7; DNA METHYLATION; GENOMIC IMPRINTING; GROWTH DISORDERS; HUMANS; SILVER-RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 77953692661     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-5-19     Document Type: Review

References (59)

1. Broad clinical spectrum in Silver-Russell syndrome and consequences for genetic testing in growth retardation. T Eggermann D Gonzalez S Spengler M Arslan-Kirchner G Binder N Schönherr, Pediatrics 2009 123 929 e931 10.1542/peds.2008-3228 19364767
2. Three-generation dominant transmission of the Silver-Russell syndrome. PA Duncan JG Hall LR Shapiro BK Vibert, Am J Med Genet 1990 35 245 250 10.1002/ajmg.1320350220 2178417
3. Two sisters with Silver-Russell phenotype. K Ounap T Reimand ML Magi O Bartsch, Am J Med Genet A 2004 131 301 306 10.1002/ajmg.a.30379 15523618
4. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes. D Bartholdi M Krajewska-Walasek K Ounap H Gaspar KH Chrzanowska H Ilyana H Kayserili IW Lurie A Schinzel A Baumer, J Med Genet 2009 46 192 197 10.1136/jmg.2008.061820 19066168
5. Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25. AT Midro K Debek A Sawicka D Marcinkiewicz M Rogowska, Clin Genet 1993 44 53 55 8403458
6. Severe Silver-Russell syndrome and translocation (17;20) (q25;q13). ML Ramirez-Duenas C Medina R Ocampo-Campos H Rivera, Clin Genet 1992 41 51 53 1633648
7. Construction of a detailed physical and transcript map of the candidate region for Russell-Silver syndrome on chromosome 17q23-q24. S Dorr AT Midro C Farber J Giannakudis I Hansmann, Genomics 2001 71 174 181 10.1006/geno.2000.6413 11161811
8. Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely. T Eggermann N Schönherr K Eggermann HA Wollmann, J Med Genet 2007 44 77 10.1136/jmg.2007.049130 17400796
9. Paternally inherited deletion of CSH1 in a patient with Silver-Russell syndrome. T Eggermann K Eggermann S Mergenthaler R Kuner P Kaiser MB Ranke HA Wollmann, J Med Genet 1998 35 784 786 10.1136/jmg.35.9.784 9733042
10. Submicroscopic chromosomal imbalances in idiopathic Silver-Russell syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion syndrome. S Spengler N Schonherr G Binder H Wollmann S Fricke-Otto R Muhlenberg B Denecke M Baudis T Eggermann, J Med Genet 2009 47 356 360 10.1136/jmg.2009. 070052 19762329
11. Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients. S Bruce K Hannula-Jouppi M Puoskari I Fransson KO Simola M Lipsanen-Nyman J Kere, J Med Genet 2009
12. Chromosome 7p disruptions in Silver Russell syndrome: delineating an imprinted candidate gene region. D Monk L Bentley M Hitchins RA Myler J Clayton-Smith S Ismail SM Price MA Preece P Stanier GE Moore, Hum Genet 2002 111 376 387 10.1007/s00439-002-0777-4 12384779
13. Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver-Russell syndrome. NT Leach I Chudoba TV Stewart LB Holmes S Weremowicz, Am J Med Genet A 2007 143A 1489 1493 10.1002/ajmg.a.31794 17551927
14. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. D Kotzot S Schmitt F Bernasconi WP Robinson IW Lurie H Ilyina K Mehes BC Hamel BJ Otten M Hergersberg E Werder E Schoenle A Schinzel, Hum Mol Genet 1995 4 583 587 10.1093/hmg/4.4.583 7633407
15. Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome. A Sharp G Moore T Eggermann, Eur J Hum Genet 2001 9 887 891 10.1038/sj.ejhg.5200740 11840189
16. Gene dosage analysis in Silver-Russell syndrome: use of quantitative competitive PCR and dual-color FISH to estimate the frequency of duplications in 7p11.2-p13. S Mergenthaler A Sharp MB Ranke VM Kalscheuer HA Wollmann T Eggermann, Genet Test 2001 5 261 266 10.1089/10906570152742335 11788094
17. No evidence for mosaicism in Silver-Russell syndrome. D Monk M Hitchins S Russo M Preece P Stanier GE Moore, J Med Genet 2001 38 11 10.1136/jmg.38.4.e11 11283207
18. Maternal uniparental disomy 7 in Silver-Russell syndrome. MA Preece SM Price V Davies L Clough P Stanier RC Trembath GE Moore, J Med Genet 1997 34 6 9 10.1136/jmg.34.1.6 9032641
19. Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth. F Fares M David A Lerner R Diukman I Lerer D Abeliovich J Rivlin, Am J Med Genet A 2006 140 1785 1788 16835920
20. Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. D Monk EL Wakeling V Proud M Hitchins SN bu-Amero P Stanier MA Preece GE Moore, Am J Hum Genet 2000 66 36 46 10.1086/302717 10631135
21. The genetic aetiology of Silver-Russell syndrome. S Abu-Amero D Monk J Frost M Preece P Stanier G Moore, J Med Genet 2008 45 193 199 10.1136/jmg.2007.053017 18156438
22. Conflicting reports of imprinting status of human GRB10 in developing brain: how reliable are somatic cell hybrids for predicting allelic origin of expression? S Mergenthaler MP Hitchins N Blagitko-Dorfs D Monk HA Wollmann MB Ranke HH Ropers S Apostolidou P Stanier MA Preece T Eggermann VM Kalscheuer GE Moore, Am J Hum Genet 2001 68 543 545 10.1086/318192 11170901
23. Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark. P Arnaud D Monk M Hitchins E Gordon W Dean CV Beechey J Peters W Craigen M Preece P Stanier GE Moore G Kelsey, Hum Mol Genet 2003 12 1005 1019 10.1093/hmg/ddg110 12700169
24. Imprinted methylation profiles for proximal mouse chromosomes 11 and 7 as revealed by methylation-sensitive representational difference analysis. D Monk R Smith P Arnaud MA Preece P Stanier CV Beechey J Peters G Kelsey GE Moore, Mamm Genome 2003 14 805 816 10.1007/s00335-003-2287-7 14724735
25. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. K Hannula M Lipsanen-Nyman T Kontiokari J Kere, Am J Hum Genet 2001 68 247 253 10.1086/316937 11112662
26. Mosaic maternal uniparental isodisomy for chromosome 7q21-qter. MP Reboul O Tandonnet N Biteau PC Belet-de L Rebouissoux K Moradkhani PY Vu R Saura B Arveiler D Lacombe L Taine A Iron, Clin Genet 2006 70 207 213 10.1111/j.1399-0004.2006.00664.x 16922723
27. Segmental maternal UPD(7q) in Silver-Russell syndrome. T Eggermann N Schonherr S Jager C Spaich MB Ranke HA Wollmann G Binder, Clin Genet 2008 74 486 489 10.1111/j.1399-0004.2008.01057.x 18700897
28. No evidence for isolated imprinting mutations in the PEG1/MEST locus in Silver-Russell patients. N Schönherr S Jager MB Ranke HA Wollmann G Binder T Eggermann, Eur J Med Genet 2008 51 322 324 10.1016/j.ejmg.2008.05.001 18585117
29. Molecular studies in 37 Silver-Russell syndrome patients: frequency and etiology of uniparental disomy. T Eggermann HA Wollmann R Kuner K Eggermann H Enders P Kaiser MB Ranke, Hum Genet 1997 100 415 419 10.1007/s004390050526 9272165
30. Silver-Russell syndrome and exclusion of uniparental disomy. ML Ayala-Madrigal LG Shaffer ML Ramirez-Duenas, Clin Genet 1996 50 494 497 9147881
31. No evidence of uniparental disomy 2, 6, 14, 16, 20, and 22 as a major cause of intrauterine growth retardation. D Kotzot IW Lurie K Mehes E Werder A Schinzel, Clin Genet 2000 58 177 180 10.1034/j.1399-0004.2000.580304.x 11076039
32. Is maternal duplication of 11p15 associated with Silver-Russell syndrome? T Eggermann E Meyer C Obermann I Heil H Schuler MB Ranke K Eggermann HA Wollmann, J Med Genet 2005 42 26 10.1136/jmg.2004.028936 15863658
33. Beckwith-Wiedemann syndrome: multiple molecular mechanisms. T Enklaar BU Zabel D Prawitt, Expert Rev Mol Med 2006 8 1 19 10.1017/S1462399406000020 16842655
34. 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. I Netchine S Rossignol MN Dufourg S Azzi A Rousseau L Perin M Houang V Steunou B Esteva N Thibaud MCR Demay F Danton E Petriczko A-M Bertrand C Heinrichs J-C Carel G-A Loeuille G Pinto M-L Jacquemont C Gicquel S Cabrol Y Le Bouc, J Clin Endocrinol Metab 2007 92 3148 3154 10.1210/jc.2007-0354 17504900
35. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. C Gicquel S Rossignol S Cabrol M Houang V Steunou V Barbu F Danton N Thibaud MM Le L Burglen A-M Bertrand I Netchine Y Le Bouc, Nat Genet 2005 37 1003 1007 10.1038/ng1629 16086014
36. Hypomethylation of the H19 gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry or an SRS-like phenotype. J Bliek P Terhal MJ van den Bogaard S Maas B Hamel G Salieb-Beugelaar M Simon T Letteboer SJ van der H Kroes M Mannens, Am J Hum Genet 2006 78 604 614 10.1086/502981 16532391
37. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. T Eggermann N Schonherr K Eggermann K Buiting MB Ranke HA Wollmann G Binder, Clin Genet 2008 73 79 84 10.1111/j.1399-0004.2007.00930.x 18070127
38. A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting. TM Dechiara A Efstratiadis EJ Robertson, Nature 1990 345 78 80 10.1038/345078a0 2330056
39. Placental-specific IGF-II is a major modulator of placental and fetal growth. M Constncia M Hemberger J Hughes W Dean A Ferguson-Smith R Fundele F Stewart G Kelsey A Fowden C Sibley W Reik, Nature 2002 417 945 948 10.1038/nature00819 12087403
40. Igf2 imprinting does not require its own DNA methylation or H19 RNA. BK Jones JM Levorse SM Tilghman, Genes Dev 1998 12 2200 2207 10.1101/gad.12.14.2200 9679064
41. The imprinted H19 noncoding RNA is a primary microRNA precursor. X Cai BR Cullen, RNA 2007 13 313 316 10.1261/rna.351707 17237358
42. Functional analysis of the p57KIP2 gene mutation in Beckwith-Wiedemann syndrome. ZA Bhuiyan H Yatsuki T Sasaguri K Joh H Soejima X Zhu I Hatada H Morisaki T Morisaki T Mukai, Hum Genet 1999 104 205 210 10.1007/s004390050937 10323243
43. IGF2/H19 hypomethylation in Silver-Russell syndrome and isolated hemihypoplasia. M Zeschnigk B Albrecht K Buiting D Kanber T Eggermann G Binder J Gromoll EC Prott S Seland B Horsthemke, Eur J Hum Genet 2008 16 328 334 10.1038/sj.ejhg.5201974 18159214
44. (Epi)mutations in 11p15 significantly contribute to Silver-Russell syndrome: but are they generally involved in growth retardation? N Schonherr E Meyer K Eggermann MB Ranke HA Wollmann T Eggermann, Eur J Med Genet 2006 49 414 418 10.1016/j.ejmg.2006.03.001 16603426
45. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. N Schonherr E Meyer A Roos A Schmidt HA Wollmann T Eggermann, J Med Genet 2007 44 59 63 10.1136/jmg.2006.044370 16963484
46. Imprinting status of 11p15 genes in Beckwith-Wiedemann syndrome patients with CDKN1C mutations. M Li J Squire C Shuman YL Fei J Atkin R Pauli A Smith J Nishikawa D Chitayat R Weksberg, Genomics 2001 74 370 376 10.1006/geno.2001.6549 11414765
47. Monozygotic twins discordant for the Russell-Silver syndrome. W Bailey B Popovich KL Jones, Am J Med Genet 1995 58 101 105 10.1002/ajmg.1320580202 8533797
48. Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome. R Weksberg C Shuman O Caluseriu AC Smith YL Fei J Nishikawa TL Stockley L Best D Chitayat A Olney E Ives A Schneider TH Bestor M Li P Sadowski J Squire, Hum Mol Genet 2002 11 1317 1325 10.1093/hmg/11.11.1317 12019213
49. Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells. J Bliek M Alders SM Maas RJ Oostra DM Mackay LK van der JL Callaway A Brooks PS van't A Westerveld JM Leschot MMAM Mannens, Eur J Hum Genet 2009 17 1625 1634 10.1038/ejhg.2009.77 19513094
50. ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome. T Arima T Kamikihara T Hayashida K Kato T Inoue Y Shirayoshi M Oshimura H Soejima T Mukai N Wake, Nucleic Acids Res 2005 33 2650 2660 10.1093/nar/gki555 15888726
51. The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region. S Rossignol V Steunou C Chalas A Kerjean M Rigolet E Viegas-Pequignot P Jouannet BY Le C Gicquel, J Med Genet 2006 43 902 907 10.1136/jmg.2006.042135 16825435
52. A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus. DJ Mackay SE Boonen J Clayton-Smith J Goodship JM Hahnemann SG Kant PR Njolstad NH Robin DO Robinson R Siebert JP Shield HE White IK Temple, Hum Genet 2006 120 262 269 10.1007/s00439-006-0205-2 16816970
53. 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. S Azzi S Rossignol V Steunou T Sas N Thibaud F Danton JM Le C Heinrichs S Cabrol C Gicquel Y Le Bouc I Netchin, Hum Mol Genet 2009 18 4724 4733 10.1093/hmg/ddp435 19755383
54. Genomic imprinting disrupted by a maternal effect mutation in the Dnmt1 gene. CY Howell TH Bestor F Ding KE Latham C Mertineit JM Trasler JR Chaillet, Cell 2001 104 829 838 10.1016/S0092-8674(01)00280-X 11290321
55. Stochastic imprinting in the progeny of Dnmt3L-/- females. P Arnaud K Hata M Kaneda E Li H Sasaki R Feil G Kelsey, Hum Mol Genet 2006 15 589 598 10.1093/hmg/ddi475 16403808
56. The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration. G Binder A-K Seidel DD Martin HA Wollmann T Eggermann MB Ranke, J Clin Endocrin Metabol 2008 93 1402 1407 10.1210/jc.2007-1897 (Pubitemid 351519741)
57. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? K Hannula J Kere S Pirinen C Holmberg M Lipsanen-Nyman, J Med Genet 2001 38 273 278 10.1136/jmg.38.4.273 11370636
58. Growth and symptoms in Silver-Russell syndrome: review on the basis of 386 patients. HA Wollmann T Kirchner H Enders MA Preece MB Ranke, Eur J Pediatr 1995 154 958 968 10.1007/BF01958638 8801103
59. Maternal uniparental disomy 7 and Silver-Russell syndrome: clinical update and comparison with other subgroups. D Kotzot, Eur J Med Genet 2008 51 444 451 10.1016/j.ejmg.2008.06.001 18655849