Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotype

European Journal of Human Genetics

Volumn 23, Issue 8, 2015, Pages 1062-1067

  Kagami, Masayo ^a   Mizuno, Seiji ^b   Matsubara, Keiko ^a   Nakabayashi, Kazuhiko ^a   Sano, Shinichiro ^a   Fuke, Tomoko ^a   Fukami, Maki ^a   Ogata, Tsutomu ^a,c  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

^c HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GONADORELIN DERIVATIVE; GROWTH HORMONE; DLK1 PROTEIN, HUMAN; LONG UNTRANSLATED RNA; MEG3 NON-CODING RNA, HUMAN; MEMBRANE PROTEIN; SIGNAL PEPTIDE;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14Q; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA METHYLATION; EPIGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; INTERGENIC DIFFERENTIALLY METHYLATED REGION; JAPANESE (PEOPLE); MALE; MOSAICISM; PHENOTYPE; PRECOCIOUS PUBERTY; PRESCHOOL CHILD; PRIORITY JOURNAL; PYROSEQUENCING; SCHOOL CHILD; SHORT STATURE; SILVER RUSSELL SYNDROME; UNIPARENTAL DISOMY; CHROMOSOME 14; FEMALE; GENETIC EPIGENESIS; GENETICS; GENOME IMPRINTING; PATHOLOGY;

CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE GENOMIC HYBRIDIZATION; DNA METHYLATION; EPIGENESIS, GENETIC; FEMALE; GENOMIC IMPRINTING; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; PHENOTYPE; RNA, LONG NONCODING; SILVER-RUSSELL SYNDROME; UNIPARENTAL DISOMY;

EID: 84937525560     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2014.234     Document Type: Article

References (29)

1. da Rocha ST, Edwards CA, Ito M, Ogata T, Ferguson-Smith AC: Genomic imprinting at the mammalian Dlk1-Dio3 domain. Trends Genet 2008; 24: 306-316.
2. Kagami M, Sekita Y, Nishimura G et al: Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd (14)-like phenotypes. Nat Genet 2008; 40: 237-242.
3. Hoffmann K, Heller R: Uniparental disomies 7 and 14. Best Pract Res Clin Endocrinol Metab 2011; 25: 77-100.
4. Temple IK, Shrubb V, Lever M, Bullman H, Mackay DJ: Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J Med Genet 2007; 44: 637-640.
5. Hosoki K, Ogata T, Kagami M, Tanaka T, Saitoh S: Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype. Eur J Hum Genet 2008; 16: 1019-1023.
6. Buiting K, Kanber D, Martin-Subero JI et al: Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster. Hum Mutat 2008; 29: 1141-1146.
7. Zechner U, Kohlschmidt N, Rittner G et al: Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype. Clin Genet 2009; 75: 251-258.
8. Ioannides Y, Lokulo-Sodipe K, Mackay DJ, Davies JH, Temple IK: Temple Syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. J Med Genet 2014; 51: 495-501.
9. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ: Prader-Willi Syndrome. Genet Med 2012; 14: 10-26.
10. Mitter D, Buiting K, von Eggeling F et al: Is there a higher incidence of maternal uniparental disomy 14 [upd(14)mat]? Detection of 10 new patients by methylation-specific PCR. Am J Med Genet A 2006; 140: 2039-2049.
11. Eggermann T: Russell-Silver Syndrome. Am J Med Genet C Semin Med Genet 2010; 154C: 355-364.
12. Poole RL, Docherty LE, Al Sayegh A et al: Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders. Am J Med Genet A 2013; 161: 2174-2182.
13. Fuke T, Mizuno S, Nagai T et al: Molecular and clinical studies in 138 Japanese patients with Silver-Russell Syndrome. PLoS one 2013; 8: e60105.
14. 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. J Clin Endocrinol Metab 2007; 92: 3148-3154.
15. Hitchins MP, Stanier P, Preece MA, Moore GE: Silver-Russell Syndrome: a dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet 2001; 38: 810-819.
16. Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE: The genetic aetiology of Silver-Russell Syndrome. J Med Genet 2008; 45: 193-199.
17. Bruce S, Hannula-Jouppi K, Puoskari M et al: Submicroscopic genomic alterations in Silver-Russell Syndrome and Silver-Russell-like patients. J Med Genet 2010; 47: 816-822.
18. Spengler S, Schonherr N, Binder G et al: Submicroscopic chromosomal imbalances in idiopathic Silver-Russell Syndrome (SRS): the SRS phenotype overlaps with the 12q14 microdeletion Syndrome. J Med Genet 2010; 47: 356-360.
19. Binder G, Begemann M, Eggermann T, Kannenberg K: Silver-Russell Syndrome. Best Pract Res Clin Endocrinol Metab 2011; 25: 153-160.
20. 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.
21. 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. Am J Hum Genet 2006; 78: 604-614.
22. Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T: Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. Eur J Hum Genet 2012; 20: 928-932.
23. Court F, Martin-Trujillo A, Romanelli V et al: Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting Syndromes. Hum Mutat 2013; 34: 595-602.
24. Yamazawa K, Ogata T, Ferguson-Smith AC: Uniparental disomy and human disease: anoverview. Am J Med Genet C Semin Med Genet 2010; 154C: 329-334.
25. Berends MJ, Hordijk R, Scheffer H, Oosterwijk JC, Halley DJ, Sorgedrager N: Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype. Am J Med Genet A 1999; 84: 76-79.
26. Kagami M, O'Sullivan MJ, Green AJ et al: The IG-DMR and the MEG3-DMR at human chromosome 14q32.2: hierarchical interaction and distinct functional properties as imprinting control centers. PLoS Genet 2010; 6: e1000992.
27. Saenger P, Czernichow P, Hughes I, Reiter EO: Small for gestational age: short stature and beyond. Endocr Rev 2007; 28: 219-251.
28. Manipalviratn S, DeCherney A, Segars J: Imprinting disorders and assisted reproductive technology. Fertil Steril 2009; 91: 305-315.
29. Inokuchi M, Matsuo N, Anzo M, Hasegawa T: Body mass index reference values (mean and SD) for Japanese children. Acta Paediatr 2007; 96: 1674-1676.