The origin of imprinting defects in Temple syndrome and comparison with other imprinting disorders

References

• Ioannides Y, Lokulo-Sodipe K, Mackay DJ, et al. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. J Med Genet. 2014 Aug;51(8):495–501. PubMed PMID: 24891339; eng.
   PubMed Web of Science ®Google Scholar
• Gillessen-Kaesbach G, Albrecht B, Eggermann T, et al. Molecular and clinical studies in 8 patients with Temple syndrome. Clin Genet. 2018 Jun;93(6):1179–1188. PubMed PMID: 29468661; eng.
   PubMed Web of Science ®Google Scholar
• 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 Jun;6(6):e1000992. PubMed PMID: 20585555; PubMed Central PMCID: PMC2887472. eng.
   PubMed Web of Science ®Google Scholar
• Beygo J, Elbracht M, de Groot K, et al. Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32. Eur J Hum Genet. 2015 Feb;23(2):180–188. PubMed PMID: 24801763; PubMed Central PMCID: PMC4297900. eng.
   PubMed Web of Science ®Google Scholar
• Monk D, Morales J, den Dunnen JT, et al. Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains. Epigenetics. 2016 Dec 2. PubMed PMID: 27911167; eng. DOI:10.1080/15592294.2016.1264561
   Web of Science ®Google Scholar
• Court F, Tayama C, Romanelli V, et al. Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment. Genome Res. 2014 Apr;24(4):554–569. PubMed PMID: 24402520; PubMed Central PMCID: PMC3975056. eng.
   PubMed Web of Science ®Google Scholar
• Bens S, Kolarova J, Gillessen-Kaesbach G, et al. The differentially methylated region of MEG8 is hypermethylated in patients with Temple syndrome. Epigenomics. 2015 Oct;7(7):1089–1097. PubMed PMID: 26541061; eng.
   PubMed Web of Science ®Google Scholar
• Beygo J, Kuchler A, Gillessen-Kaesbach G, et al. New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. Eur J Hum Genet. 2017 Aug;25(8):935–945. PubMed PMID: 28635951; PubMed Central PMCID: PMC5567157. eng.
   PubMed Web of Science ®Google Scholar
• Reik W, Walter J. Genomic imprinting: parental influence on the genome. Nat Rev Genet. 2001 Jan;2(1):21–32. PubMed PMID: 11253064; eng.
   PubMed Web of Science ®Google Scholar
• Li Y, Sasaki H. Genomic imprinting in mammals: its life cycle, molecular mechanisms and reprogramming. Cell Res. 2011 Mar;21(3):466–473. PubMed PMID: 21283132; PubMed Central PMCID: PMC3193417. eng.
   PubMed Web of Science ®Google Scholar
• Kaneda M. Genomic imprinting in mammals-epigenetic parental memories. Differentiation. 2011 Sep;82(2):51–56. bPubMed PMID: 21680080; eng.
   PubMed Web of Science ®Google Scholar
• Stewart KR, Veselovska L, Kelsey G. Establishment and functions of DNA methylation in the germline. Epigenomics. 2016 Oct;8(10):1399–1413. PubMed PMID: 27659720; PubMed Central PMCID: PMC5066131. eng.
   PubMed Web of Science ®Google Scholar
• Davis TL, Trasler JM, Moss SB, et al. Acquisition of the H19 methylation imprint occurs differentially on the parental alleles during spermatogenesis. Genomics. 1999 May 15;58(1):18–28. PubMed PMID: 10331941; eng.
   PubMed Web of Science ®Google Scholar
• Lee DH, Singh P, Tsai SY, et al. CTCF-dependent chromatin bias constitutes transient epigenetic memory of the mother at the H19-Igf2 imprinting control region in prospermatogonia. PLoS Genet. 2010 Nov 24;6(11):e1001224. PubMed PMID: 21124827; PubMed Central PMCID: PMC2991272. eng.
   PubMed Web of Science ®Google Scholar
• Kato Y, Kaneda M, Hata K, et al. Role of the Dnmt3 family in de novo methylation of imprinted and repetitive sequences during male germ cell development in the mouse. Hum Mol Genet. 2007 Oct 01;16(19):2272–2280. PubMed PMID: 17616512; eng.
   PubMed Web of Science ®Google Scholar
• Henckel A, Chebli K, Kota SK, et al. Transcription and histone methylation changes correlate with imprint acquisition in male germ cells. EMBO J. 2012 Feb 1;31(3):606–615. PubMed PMID: 22117218; PubMed Central PMCID: PMC3273379. eng.
   PubMed Web of Science ®Google Scholar
• 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 Oct 1;140(19):2039–2049. PubMed PMID: 16906536; Eng.
   PubMedGoogle Scholar
• Kagami M, Kurosawa K, Miyazaki O, et al. Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome). Eur J Hum Genet. 2015 Nov;23(11):1488–1498. PubMed PMID: 25689926; PubMed Central PMCID: PMC4613461. eng.
   PubMed Web of Science ®Google Scholar
• Lande A, Kroken M, Rabben K, et al. Temple syndrome as a differential diagnosis to Prader-Willi syndrome: identifying three new patients. Am J Med Genet A. 2018 Jan;176(1):175–180. PubMed PMID: 29159982; eng.
   PubMed Web of Science ®Google Scholar
• Buiting K, Gross S, Lich C, et al. Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect. Am J Hum Genet. 2003 Mar;72(3):571–577. PubMed PMID: 12545427; PubMed Central PMCID: PMC1180233. eng.
   PubMed Web of Science ®Google Scholar
• Cerrato F, Sparago A, Verde G, et al. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms’ tumour. Hum Mol Genet. 2008 May 15;17(10):1427–1435. PubMed PMID: 18245780; eng.
   PubMed Web of Science ®Google Scholar
• Buiting K, Williams C, Horsthemke B. Angelman syndrome - insights into a rare neurogenetic disorder. Nat Rev Neurol. 2016 Oct;12(10):584–593. PubMed PMID: 27615419; eng.
   PubMed Web of Science ®Google Scholar
• Eggermann T, Begemann M, Binder G, et al. Silver-Russell syndrome: genetic basis and molecular genetic testing. Orphanet J Rare Dis. 2010 Jun 23;5:19. PubMed PMID: 20573229; PubMed Central PMCID: PMC2907323. eng.
   PubMed Web of Science ®Google Scholar
• Mussa A, Russo S, Larizza L, et al. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine. Clin Genet. 2016 Apr;89(4):403–415. PubMed PMID: 26138266; eng.
   PubMed Web of Science ®Google Scholar
• Wey E, Bartholdi D, Riegel M, et al. Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. Eur J Hum Genet. 2005 Mar;13(3):273–277. PubMed PMID: 15578038; eng.
   PubMed Web of Science ®Google Scholar
• Dittrich B, Buiting K, Korn B, et al. Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene. Nat Genet. 1996 Oct;14(2):163–170. PubMed PMID: 8841186; eng.
   PubMed Web of Science ®Google Scholar
• Ogata T, Kagami M. Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. J Hum Genet. 2016 Feb;61(2):87–94. PubMed PMID: 26377239; PubMed Central PMCID: PMC4771937. eng.
   PubMed Web of Science ®Google Scholar
• Tomizawa S, Nowacka-Woszuk J, Kelsey G. DNA methylation establishment during oocyte growth: mechanisms and significance. Int J Dev Biol. 2012;56(10–12):867–875. PubMed PMID: 23417409; eng.
   PubMed Web of Science ®Google Scholar
• Kelsey G, Feil R. New insights into establishment and maintenance of DNA methylation imprints in mammals. Philos Trans R Soc Lond B Biol Sci. 2013 Jan 5;368(1609):20110336. PubMed PMID: 23166397; PubMed Central PMCID: PMC3539362. eng.
   PubMed Web of Science ®Google Scholar
• 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 Sep;29(9):1141–1146. PubMed PMID: 18454453; eng.
   PubMed Web of Science ®Google Scholar
• Rahmann S, Beygo J, Kanber D, et al. Amplikyzer: automated methylation analysis of amplicons from bisulfite flowgram sequencing. PeerJ PrePrints. 2013;1:e122v2.
   Google Scholar