Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome

References

• Mussa A, Russo S, De Crescenzo A, et al. Prevalence of Beckwith-Wiedemann syndrome in North West of Italy. Am J Med Genet A. 2013;161A(10):2481–2486.
   PubMedGoogle Scholar
• Brioude F, Kalish JM, Mussa A, et al. Expert consensus document: clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Nat Rev Endocrinol. 2018;14(4):229–249.
   PubMed Web of Science ®Google Scholar
• Jinno Y, Ikeda Y, Yun K, et al. Establishment of functional imprinting of the H19 gene in human developing placentae. Nat Genet. 1995;10(3):318–324.
   PubMed Web of Science ®Google Scholar
• Fowden AL. The insulin-like growth factors and feto-placental growth. Placenta. 2003;24(8–9):803–812.
   PubMed Web of Science ®Google Scholar
• Ohlsson R, Hedborg F, Holmgren L, et al. Overlapping patterns of IGF2 and H19 expression during human development: biallelic IGF2 expression correlates with a lack of H19 expression. Development. 1994;120(2):361–368.
   PubMed Web of Science ®Google Scholar
• Ekstrom TJ, Cui H, Li X, et al. Promoter-specific IGF2 imprinting status and its plasticity during human liver development. Development. 1995;121(2):309–316.
   PubMed Web of Science ®Google Scholar
• Monk D, Sanches R, Arnaud P, et al. Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human. Hum Mol Genet. 2006;15(8):1259–1269.
   PubMed Web of Science ®Google Scholar
• Ager EI, Pask AJ, Shaw G, et al. Expression and protein localisation of IGF2 in the marsupial placenta. BMC Dev Biol. 2008;8:17.
   PubMed Web of Science ®Google Scholar
• Stampone E, Caldarelli I, Zullo A, et al. Genetic and epigenetic control of CDKN1C expression: importance in cell commitment and differentiation, tissue homeostasis and human diseases. Int J Mol Sci. 2018;19(4):1055.
   PubMed Web of Science ®Google Scholar
• Baran Y, Subramaniam M, Biton A, et al. The landscape of genomic imprinting across diverse adult human tissues. Genome Res. 2015;25(7):927–936.
   PubMed Web of Science ®Google Scholar
• Eggermann T, Begemann M, Pfeiffer L. Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains. Clin Epigenetics. 2021;13(1):30.
   PubMed Web of Science ®Google Scholar
• Baskin B, Choufani S, Chen YA, et al. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. Hum Genet. 2014;133(3):321–330.
   PubMed Web of Science ®Google Scholar
• Vals MA, Kahre T, Mee P, et al. Familial 1.3-Mb 11p15.5p15.4 duplication in three generations causing Silver-Russell and Beckwith-Wiedemann syndromes. Mol Syndromol. 2015;6(3):147–151.
   PubMedGoogle Scholar
• Heide S, Chantot-Bastaraud S, Keren B, et al. Chromosomal rearrangements in the 11p15 imprinted region: 17 new 11p15.5 duplications with associated phenotypes and putative functional consequences. J Med Genet. 2018;55(3):205–213.
   PubMed Web of Science ®Google Scholar
• Begemann M, Spengler S, Gogiel M, et al. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. J Med Genet. 2012;49(9):547–553.
   PubMed Web of Science ®Google Scholar
• Ginart P, Kalish JM, Jiang CL, et al. Visualizing allele-specific expression in single cells reveals epigenetic mosaicism in an H19 loss-of-imprinting mutant. Genes Dev. 2016;30(5):567–578.
   PubMed Web of Science ®Google Scholar
• Itoh N, Becroft DM, Reeve AE, et al. Proportion of cells with paternal 11p15 uniparental disomy correlates with organ enlargement in Wiedemann-beckwith syndrome. Am J Med Genet. 2000;92(2):111–116.
   PubMed Web of Science ®Google Scholar
• Monk D, Mackay DJG, Eggermann T, et al. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact. Nat Rev Genet. 2019;20(4):235–248.
   PubMed Web of Science ®Google Scholar
• Kotzot D. Complex and segmental uniparental disomy updated. J Med Genet. 2008;45(9):545–556.
   PubMed Web of Science ®Google Scholar
• Kotzot D, Utermann G. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet A. 2005;136(3):287–305.
   PubMedGoogle Scholar
• Henry I, Puech A, Riesewijk A, et al. Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event. Eur J Hum Genet. 1993;1(1):19–29.
   PubMedGoogle Scholar
• Berland S, Rustad CF, Bentsen MHL, et al. Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features. Cold Spring Harb Mol Case Stud. 2021;7(6):a006113.
   PubMed Web of Science ®Google Scholar
• Kalish JM, Conlin LK, Bhatti TR, et al. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A. 2013;161A(8):1929–1939.
   PubMedGoogle Scholar
• Spier I, Engels H, Stutte S, et al. Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotype. Am J Med Genet A. 2019;179(11):2252–2256.
   PubMed Web of Science ®Google Scholar
• Wang R, Xiao Y, Li D, et al. Clinical and molecular features of children with Beckwith-Wiedemann syndrome in China: a single-center retrospective cohort study. Ital J Pediatr. 2020;46(1):55.
   PubMed Web of Science ®Google Scholar
• Sheppard SE, Lalonde E, Adzick NS, et al. Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genet Med. 2019;21(11):2644–2649.
   PubMed Web of Science ®Google Scholar
• Romanelli V, Meneses HN, Fernandez L, et al. Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques. Eur J Hum Genet. 2011;19(4):416–421.
   PubMed Web of Science ®Google Scholar
• Keren B, Chantot-Bastaraud S, Brioude F, et al. SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy. Eur J Med Genet. 2013;56(10):546–550.
   PubMed Web of Science ®Google Scholar
• Russo S, Calzari L, Mussa A, et al. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. Clin Epigenetics. 2016;8:23.
   PubMed Web of Science ®Google Scholar
• Eggermann T, Bruck J, Knopp C, et al. Need for a precise molecular diagnosis in Beckwith-Wiedemann and Silver-Russell syndrome: what has to be considered and why it is important. J Mol Med (Berl). 2020;98(10):1447–1455.
   PubMed Web of Science ®Google Scholar
• Myers S, Freeman C, Auton A, et al. A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet. 2008;40(9):1124–1129.
   PubMed Web of Science ®Google Scholar
• Ohtsuka Y, Higashimoto K, Oka T, et al. Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11. Hum Mol Genet. 2016;25(7):1124–1129. DOI:10.1093/hmg/ddw023.
   Web of Science ®Google Scholar
• Defabianis P, Mussa A, Ninivaggi R, et al. Maxillo-facial morphology in Beckwith-Wiedemann syndrome: a preliminary study on (epi)genotype-phenotype association in caucasians. Int J Environ Res Public Health. 2022;19(4):2448.
   PubMed Web of Science ®Google Scholar
• Ibrahim A, Kirby G, Hardy C, et al. Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. Clin Epigenetics. 2014;6(1):11.
   PubMed Web of Science ®Google Scholar
• Maas SM, Vansenne F, Kadouch DJ, et al. Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. Am J Med Genet A. 2016;170(9):2248–2260.
   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;89(4):403–415.
   PubMed Web of Science ®Google Scholar
• Postema FAM, Bliek J, van Noesel CJM, et al. Multiple tumors due to mosaic genome-wide paternal uniparental disomy. Pediatr Blood Cancer. 2019;66(6):e27715.
   PubMed Web of Science ®Google Scholar
• Bertoin F, Letouze E, Grignani P, et al. Genome-wide paternal uniparental disomy as a cause of Beckwith-Wiedemann syndrome associated with recurrent virilizing adrenocortical tumors. Horm Metab Res. 2015;47(7):497–503.
   PubMed Web of Science ®Google Scholar
• Scott RH, Douglas J, Baskcomb L, et al. Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. Nat Genet. 2008;40(11):1329–1334.
   PubMed Web of Science ®Google Scholar
• Varrault A, Gueydan C, Delalbre A, et al. Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth. Dev Cell. 2006;11(5):711–722.
   PubMed Web of Science ®Google Scholar
• Pinto EM, Chen X, Easton J, et al. Genomic landscape of paediatric adrenocortical tumours. Nat Commun. 2015;6:6302.
   PubMed Web of Science ®Google Scholar
• Pinto EM, Rodriguez-Galindo C, Lam CG, et al. Adrenocortical tumors in children with constitutive chromosome 11p15 paternal uniparental disomy: implications for diagnosis and treatment. Front Endocrinol (Lausanne). 2021;12:756523.
   PubMedGoogle Scholar
• Mussa A, Leoni C, Iacoviello M, et al. Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants. J Med Genet. 2022.
   PubMed Web of Science ®Google Scholar
• Ohtsuka Y, Higashimoto K, Sasaki K, et al. Autosomal recessive cystinuria caused by genome-wide paternal uniparental isodisomy in a patient with Beckwith-Wiedemann syndrome. Clin Genet. 2015;88(3):261–266.
   PubMed Web of Science ®Google Scholar
• Tung JY, Lai SHY, Slk A, et al. Coexistence of paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p hyperinsulinism. Int J Pediatr Endocrinol. 2020;2020:13.
   PubMed Web of Science ®Google Scholar
• Kalish JM, Boodhansingh KE, Bhatti TR, et al. Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome. J Med Genet. 2016;53(1):53–61.
   PubMed Web of Science ®Google Scholar
• Kocaay P, Siklar Z, Ellard S, et al. Coexistence of mosaic uniparental isodisomy and a KCNJ11 mutation presenting as diffuse congenital hyperinsulinism and hemihypertrophy. Horm Res Paediatr. 2016;85(6):421–425.
   PubMedGoogle Scholar
• Benn P. Uniparental disomy: origin, frequency, and clinical significance. Prenat Diagn. 2021;41(5):564–572.
   PubMed Web of Science ®Google Scholar
• Van Paemel R, Vlug R, De Preter K, et al. The pitfalls and promise of liquid biopsies for diagnosing and treating solid tumors in children: a review. Eur J Pediatr. 2020;179(2):191–202.
   PubMed Web of Science ®Google Scholar
• Shubina J, Barkov IY, Stupko OK, et al. Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: case report and literature review. Mol Genet Genomic Med. 2020;8(10):e1448.
   Web of Science ®Google Scholar
• Darcy D, Atwal PS, Angell C, et al. Mosaic paternal genome-wide uniparental isodisomy with down syndrome. Am J Med Genet A. 2015;167A(10):2463–2469.
   PubMedGoogle Scholar