Molecular Findings in BeckwithWiedemann Syndrome

被引：90
作者：
Choufani, Sanaa [1 ]
Shuman, Cheryl [2 ]
Weksberg, Rosanna [3 ,4 ]
机构：
[1] Hosp Sick Children, Res Inst, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada
[2] Univ Toronto, Program Genet Counselling, Toronto, ON M5S 1A1, Canada
[3] Hosp Sick Children, Toronto, ON M5G 1X8, Canada
[4] Univ Toronto, Toronto, ON M5S 1A1, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2013年 / 163C卷 / 02期
基金：
加拿大自然科学与工程研究理事会;
关键词：
BeckwithWiedemann syndrome; genomic imprinting; epigenetics; BECKWITH-WIEDEMANN-SYNDROME; IMPRINTING CONTROL REGION; ASSISTED REPRODUCTIVE TECHNOLOGY; REPRESSIVE HISTONE METHYLATION; ABERRANT DNA METHYLATION; NONCODING RNA; TUMOR RISK; CHROMOSOME; 11P15; RUSSELL-SILVER; FETAL-GROWTH;
D O I：
10.1002/ajmg.c.31363
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Our understanding of BeckwithWiedemann syndrome (BWS) has recently been enhanced by advances in its molecular characterization. These advances have further delineated intricate (epi)genetic regulation of the imprinted gene cluster on chromosome 11p15.5 and the role of these genes in normal growth and development. Studies of the molecular changes associated with the BWS phenotype have been instrumental in elucidating critical molecular elements in this imprinted region. This review will provide updated information on the multiple new regulatory elements that have been recently found to contribute to in cis or in trans control of imprinted gene expression in the chromosome 11p15.5 region and the clinical expression of the BWS phenotype. (c) 2013 Wiley Periodicals, Inc.
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收藏
页码：131 / 140
页数：10
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