Paternal Duplication of the 11p15 Centromeric Imprinting Control Region Is Associated with Increased Expression of CDKN1C in a Child with Russell-Silver Syndrome

被引：4
|
作者：
Xue, Yuan [1 ,2 ]
Shankar, Suma [2 ]
Cornell, Kristen [2 ]
Dai, Zunyan [1 ,2 ]
Wang, Chuan-En [2 ]
Rudd, M. Katherine [1 ,2 ]
Coffee, Bradford [1 ,2 ]
机构：
[1] Emory Univ, Emory Genet Lab, Atlanta, GA 30322 USA
[2] Emory Univ, Dept Human Genet, Atlanta, GA 30322 USA
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2015年 / 167卷 / 12期
关键词：
BECKWITH-WIEDEMANN SYNDROME; COPY NUMBER VARIATIONS; PCNA-BINDING DOMAIN; CHROMOSOME; 11P15; INSIGHTS;
D O I：
10.1002/ajmg.a.37371
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
[No abstract available]
引用
收藏
页码：3229 / 3233
页数：5
相关论文
共 37 条
  • [31] Decreased expression of cell proliferation-related genes in clonally derived skin fibroblasts from children with Silver-Russell syndrome is independent of the degree of 11p15 ICR1 hypomethylation
    Doreen Heckmann
    Christina Urban
    Karin Weber
    Kai Kannenberg
    Gerhard Binder
    Clinical Epigenetics, 2015, 7
  • [32] Decreased expression of cell proliferation-related genes in clonally derived skin fibroblasts from children with Silver-Russell syndrome is independent of the degree of 11p15 ICR1 hypomethylation
    Heckmann, Doreen
    Urban, Christina
    Weber, Karin
    Kannenberg, Kai
    Binder, Gerhard
    CLINICAL EPIGENETICS, 2015, 7 : 5 - 7
  • [33] Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11
    Montenegro, Luciana R.
    Leal, Andrea C.
    Coutinho, Debora C.
    Valassi, Helena P. L.
    Nishi, Mirian Y.
    PArnhold, Ivo J.
    Mendonca, Berenice B.
    Jorge, Alexander A. L.
    EUROPEAN JOURNAL OF ENDOCRINOLOGY, 2012, 166 (03) : 543 - 550
  • [34] Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome
    Azzi, Salah
    Steunou, Virginie
    Tost, Joerg
    Rossignol, Sylvie
    Thibaud, Nathalie
    Das Neves, Cristina
    Le Jule, Marilyne
    Habib, Walid Abi
    Blaise, Annick
    Koudou, Yves
    Busato, Florence
    Le Bouc, Yves
    Netchine, Irene
    JOURNAL OF MEDICAL GENETICS, 2015, 52 (01) : 53 - 60
  • [35] Allele-Specific Methylated Multiplex Real-Time Quantitative PCR (ASMM RTQ-PCR), a Powerful Method for Diagnosing Loss of Imprinting of the 11p15 Region in Russell Silver and Beckwith Wiedemann Syndromes
    Azzi, Salah
    Steunou, Virginie
    Rousseau, Alexandra
    Rossignol, Sylvie
    Thibaud, Nathalie
    Danton, Fabienne
    Le Jule, Marilyne
    Gicquel, Christine
    Le Bouc, Yves
    Netchine, Irene
    HUMAN MUTATION, 2011, 32 (02) : 249 - 258
  • [36] Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay
    Maier, Felicitas
    Fruehwald, Michael
    Heinrich, Uwe
    Schimmel, Mareike
    Wahl, Dagmar
    Eggermann, Thomas
    CLINICAL DYSMORPHOLOGY, 2021, 30 (04) : 189 - 193
  • [37] Exhaustive methylation analysis revealed uneven profiles of methylation at IGF2/ICR1/H19 11p15 loci in Russell Silver syndrome (vol 52, pg 53, 2015)
    Azzi, Salah
    Steunou, Virginie
    Tost, Jorg
    JOURNAL OF MEDICAL GENETICS, 2015, 52 (02)
1234