Molecular findings in Beckwith-Wiedemann syndrome.
作者： SANAA CHOUFANI , CHERYL SHUMAN , ROSANNA WEKSBERG
DOI: 10.1002/AJMG.C.31363
关键词: Trans-acting 、 Normal growth 、 Biology 、 Phenotype 、 Beckwith–Wiedemann syndrome 、 Gene 、 Genomic imprinting 、 Chromosome 、 Epigenetics 、 Genetics
摘要: Our understanding of Beckwith-Wiedemann syndrome (BWS) has recently been enhanced by advances in its molecular characterization. These have further delineated intricate (epi)genetic regulation the imprinted gene cluster on chromosome 11p15.5 and role these genes normal growth development. Studies changes associated with BWS phenotype instrumental elucidating critical elements this region. This review will provide updated information multiple new regulatory that found to contribute cis or trans control expression region clinical phenotype.
sci-hub.se 参考文章(107)
Andrea L. Webber, Robert S. Ingram, John M. Levorse, Shirley M. Tilghman, Location of enhancers is essential for the imprinting of H19 and Igf2 genes Nature. ,vol. 391, pp. 711- 715 ,(1998) , 10.1038/35655
Rosanna Weksberg, Cheryl Shuman, J Bruce Beckwith, Beckwith|[ndash]|Wiedemann syndrome European Journal of Human Genetics. ,vol. 18, pp. 8- ,(2010) , 10.1038/EJHG.2009.106
Amy T. Hark, Christopher J. Schoenherr, David J. Katz, Robert S. Ingram, John M. Levorse, Shirley M. Tilghman, CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus Nature. ,vol. 405, pp. 486- 489 ,(2000) , 10.1038/35013106
Fang-Lin Sun, Wendy L. Dean, Gavin Kelsey, Nicholas D. Allen, Wolf Reik, Transactivation of Igf2 in a mouse model of Beckwith–Wiedemann syndrome Nature. ,vol. 389, pp. 809- 815 ,(1997) , 10.1038/39797
Izuho Hatada, Sachiko Ohishi, Eamonn R Maher, Paul N Schofield, Johanna A Joyce, Dian Donnai, Wolf Reik, Tsunehiro Mukai, Wayne W K Lam, Trevor R P Cole, Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation Journal of Medical Genetics. ,vol. 36, pp. 518- 523 ,(1999) , 10.1136/JMG.36.7.518
Galina V. Fitzpatrick, Paul D. Soloway, Michael J. Higgins, Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1. Nature Genetics. ,vol. 32, pp. 426- 431 ,(2002) , 10.1038/NG988
Susanne E Boonen, Johanne M D Hahnemann, Deborah Mackay, Niels Tommerup, Karen Brøndum-Nielsen, Zeynep Tümer, Karen Grønskov, No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome European Journal of Human Genetics. ,vol. 20, pp. 119- 121 ,(2012) , 10.1038/EJHG.2011.140
Y. J. Kim, K. R. Cecchini, T. H. Kim, Conserved, developmentally regulated mechanism couples chromosomal looping and heterochromatin barrier activity at the homeobox gene A locus Proceedings of the National Academy of Sciences of the United States of America. ,vol. 108, pp. 7391- 7396 ,(2011) , 10.1073/PNAS.1018279108
L. E. Docherty, S. Kabwama, A. Lehmann, E. Hawke, L. Harrison, S. E. Flanagan, S. Ellard, A. T. Hattersley, J. P. H. Shield, S. Ennis, D. J. G. Mackay, I. K. Temple, Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype-phenotype correlation in an international cohort of patients. Diabetologia. ,vol. 56, pp. 758- 762 ,(2013) , 10.1007/S00125-013-2832-1
Eamonn R. Maher, Wolf Reik, Beckwith-Wiedemann syndrome: imprinting in clusters revisited Journal of Clinical Investigation. ,vol. 105, pp. 247- 252 ,(2000) , 10.1172/JCI9340