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 20 条
  • [1] Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
    Arboleda, Valerie A.
    Lee, Hane
    Parnaik, Rahul
    Fleming, Alice
    Banerjee, Abhik
    Ferraz-de-Souza, Bruno
    Delot, Emmanuele C.
    Rodriguez-Fernandez, Imilce A.
    Braslavsky, Debora
    Bergada, Ignacio
    Dell'Angelica, Esteban C.
    Nelson, Stanley F.
    Martinez-Agosto, Julian A.
    Achermann, John C.
    Vilain, Eric
    [J]. NATURE GENETICS, 2012, 44 (07) : 788 - 792
  • [2] High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome
    Baskin, Berivan
    Choufani, Sanaa
    Chen, Yi-an
    Shuman, Cheryl
    Parkinson, Nicole
    Lemyre, Emmanuelle
    Innes, A. Micheil
    Stavropoulos, Dimitri J.
    Ray, Peter N.
    Weksberg, Rosanna
    [J]. HUMAN GENETICS, 2014, 133 (03) : 321 - 330
  • [3] Microduplication of the ICR2 Domain at Chromosome 11p15 and Familial Silver-Russell Syndrome
    Bonaldi, Adriano
    Mazzeu, Juliana F.
    Costa, Silvia S.
    Honjo, Rachel S.
    Bertola, Debora R.
    Albano, Lilian M. J.
    Furquim, Isabel M.
    Kim, Chong A.
    Vianna-Morgante, Angela M.
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2011, 155A (10) : 2479 - 2483
  • [4] CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome
    Brioude, F.
    Oliver-Petit, I.
    Blaise, A.
    Praz, F.
    Rossignol, S.
    Le Jule, M.
    Thibaud, N.
    Faussat, A-M
    Tauber, M.
    Le Bouc, Y.
    Netchine, I.
    [J]. JOURNAL OF MEDICAL GENETICS, 2013, 50 (12) : 823 - 830
  • [5] Beckwith-Wiedemann Syndrome
    Choufani, Sanaa
    Shuman, Cheryl
    Weksberg, Rosanna
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2010, 154C (03) : 343 - 354
  • [6] Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction
    De Crescenzo, Agostina
    Sparago, Angela
    Cerrato, Flavia
    Palumbo, Orazio
    Carella, Massimo
    Miceli, Marco
    Bronshtein, Moshe
    Riccio, Andrea
    Yaron, Yuval
    [J]. JOURNAL OF MEDICAL GENETICS, 2013, 50 (02) : 99 - 103
  • [7] New Insights into the Pathogenesis of Beckwith-Wiedemann and Silver-Russell Syndromes: Contribution of Small Copy Number Variations to 11p15 Imprinting Defects
    Demars, Julie
    Rossignol, Sylvie
    Netchine, Irene
    Lee, Kai Syin
    Shmela, Mansur
    Faivre, Laurence
    Weill, Jacques
    Odent, Sylvie
    Azzi, Salah
    Callier, Patrick
    Lucas, Josette
    Dubourg, Christele
    Andrieux, Joris
    Le Bouc, Yves
    El-Osta, Assam
    Gicquel, Christine
    [J]. HUMAN MUTATION, 2011, 32 (10) : 1171 - 1182
  • [8] Eggermann T, 2012, EXPERT REV MOL DIAGN, V12, P459, DOI [10.1586/erm.12.43, 10.1586/ERM.12.43]
  • [9] Silver-Russell and Beckwith-Wiedemann Syndromes: Opposite (Epi)Mutations in 11p15 Result in Opposite Clinical Pictures
    Eggermann, Thomas
    [J]. HORMONE RESEARCH, 2009, 71 : 30 - 35
  • [10] Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
    Gicquel, C
    Rossignol, S
    Cabrol, S
    Houang, M
    Steunou, V
    Barbu, V
    Danton, F
    Thibaud, N
    Le Merrer, M
    Burglen, L
    Bertrand, AM
    Netchine, I
    Le Bouc, Y
    [J]. NATURE GENETICS, 2005, 37 (09) : 1003 - 1007
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