Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome

American Journal of Medical Genetics, Part A

Volumn 155, Issue 10, 2011, Pages 2479-2483

  Bonaldi, Adriano ^a   Mazzeu, Juliana F ^b   Costa, Silvia S ^a   Honjo, Rachel S ^a   Bertola, Débora R ^a   Albano, Lilian M J ^a   Furquim, Isabel M ^a   Kim, Chong A ^a   Vianna Morgante, Angela M ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b INSTITUTO DE CIÊNCIAS BIOLÓGICAS   (Brazil)

Author keywords

11p15 microduplication; CDKN1C; ICR2 (KvDMR1); Silver Russell syndrome

Indexed keywords

HUMAN GROWTH HORMONE;

ADOLESCENT; ARTICLE; CDKN1C GENE; CHILD; CHROMOSOME 11P; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; DEVELOPMENTAL DISORDER; FAMILIAL DISEASE; GENE; HUMAN; INHERITANCE; KCNQ1 GENE; KCNQ1OT1 GENE; MICROCHROMOSOME; MOLECULAR IMPRINTING; PRIORITY JOURNAL; PROGENY; SILVER RUSSELL SYNDROME;

CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 11; COMPARATIVE GENOMIC HYBRIDIZATION; CYCLIN-DEPENDENT KINASE INHIBITOR P57; DNA COPY NUMBER VARIATIONS; DNA METHYLATION; FEMALE; GENE DUPLICATION; HUMANS; KCNQ1 POTASSIUM CHANNEL; MALE; PEDIGREE; POTASSIUM CHANNELS, VOLTAGE-GATED; PROTEIN STRUCTURE, TERTIARY; SILVER-RUSSELL SYNDROME; TELOMERE;

EID: 80053112538     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34023     Document Type: Article

References (18)

1. Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. 2009. 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. J Med Genet 46: 192-197.
2. Bliek J, Snijder S, Maas SM, Polstra A, van der Lip K, Alders M, Knegt AC, Mannens MMAM. 2009. Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions. Eur J Med Genet 52: 404-408.
3. Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M. 2009. 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 94: 579-587.
4. Bullman H, Lever M, Robinson DO, Mackay DJ, Holder SE, Wakeling EL. 2008. Mosaic maternal uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. J Med Genet 45: 396-399.
5. Eggermann T, Meyer E, Obermann C, Heil I, Schüler H, Ranke MB, Eggermann K, Wollmann HA. 2005. Is maternal duplication of 11p15 associated with Silver-Russell syndrome? J Med Genet 42: e26.
6. Eggermann T, Schönherr N, Meyer E, Obermann C, Mavany M, Eggermann K, Ranke MB, Wollmann HA. 2006. Epigenetic mutations in 11p15 in Silver-Russell syndrome are restricted to the telomeric imprinting domain. J Med Genet 43: 615-616.
7. Eggermann T, Schönherr N, Eggermann K, Buiting K, Ranke MB, Wollmann HA, Binder G. 2008a. Use of multiplex ligation-dependent probe amplification increases the detection rate for 11p15 epigenetic alterations in Silver-Russell syndrome. Clin Genet 73: 79-84.
8. Eggermann T, Eggermann K, Schönherr N. 2008b. Growth retardation versus overgrowth: Silver-Russell syndrome is genetically opposite to Beckwith-Wiedemann syndrome. Trends Genet 4: 195-204.
9. Eggermann T, Spengler S, Bachmann N, Baudis M, Mau-Holzmann UA, Singer S, Rossier E. 2010. Chromosome 11p15 duplication in Silver-Russell syndrome due to a maternally inherited translocation t(11; 15). Am J Med Genet A 152A: 1484-1487.
10. Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. 2002. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 111: 290-296.
11. Gicquel C, Rossignol S, Cabrol S, Houang M, Steunou V, Barbu V, Danton F, Thibaud N, Le Merrer M, Burglen L, Bertrand AM, Netchine I, Le Bouc Y. 2005. Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet 37: 1003-1007.
12. Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie LW, Ilyina H, Méhes K, Hamel BCJ, Otten BJ, Hengersberg M, Werder E, Schoenle E, Schinzel A. 1995. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4: 583-587.
13. Lee MH, Reynisdottir I, Massague J. 1995. Cloning of p57Kip2, a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev 9: 639-649.
14. Netchine I, Rossignol S, Dufourg MN, Azzi S, Rousseau A, Perin L, Houang M, Steunou V, Esteva B, Thibaud N, Raux Demay MC, Danton F, Petriczko E, Bertrand AM, Heinrichs C, Carel JC, Loeuille GA, Pinto G, Jacquemont ML, Gicquel C, Cabrol S, Le Bouc Y. 2007. 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. J Clin Endocrinol Metab 92: 3148-3154.
15. Reik W, Walter J. 2001. Genomic imprinting: Parental influence on the genome. Nat Rev Genet 2: 21-32.
16. Schönherr N, Meyer E, Roos A, Schmidt A, Wollmann HA, Eggermann T. 2007. The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome. J Med Genet 44: 59-63.
17. South ST, Whitby H, Maxwell T, Aston E, Brothman AR, Carey JC. 2008. Co-occurrence of 4p16.3 deletions with both paternal and maternal duplications of 11p15: Modification of the Wolf-Hirschhorn syndrome phenotype by genetic alterations predicted to result in either a Beckwith-Wiedemann or Russell-Silver phenotype. Am J Med Genet Part A 146A: 2691-2697.
18. Weksberg R, Smith AC, Squire J, Sadowski P. 2003. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 12: R61-R68.