Complex Tissue-Specific Epigenotypes in Russell-Silver Syndrome Associated with 11p15 ICR1 Hypomethylation

被引：34

作者：

Azzi, Salah ^{[1
,2
,3
]}

Blaise, Annick ^{[1
,2
]}

Steunou, Virginie ^{[1
]}

Harbison, Madeleine D. ^{[4
]}

Salem, Jennifer ^{[5
]}

Brioude, Frederic ^{[1
,3
]}

Rossigno, Sylvie ^{[1
,2
,3
]}

Habib, Walid Abi ^{[1
,2
,3
]}

Thibaud, Nathalie ^{[3
]}

Das Neves, Cristina ^{[3
]}

Le Jule, Marilyne ^{[3
]}

Brachet, Cecile ^{[6
]}

Heinrichs, Claudine ^{[6
]}

Le Bouc, Yves ^{[1
,2
,3
]}

Netchine, Irene ^{[1
,2
,3
]}

机构：

[1] CDR Saint Antoine, INSERM, UMR S 938, F-75012 Paris, France

[2] Univ Paris 06, Sorbonne Univ, CDR St Antoine, UMR S 938, F-75012 Paris, France

[3] Armand Trousseau Hosp, AP HP, Paris, France

[4] Ichan Sch Med Mt Sinai, Dept Pediat, New York, NY USA

[5] MAGIC Fdn, RSS SGA Res & Educ Fund, Chicago, IL USA

[6] ULB, Reine Fabiola Childrens Hosp, B-1020 Brussels, Belgium

来源：

HUMAN MUTATION | 2014年 / 35卷 / 10期

关键词：

11p15; region; Russell Silver Syndrome; mutlilocus imprinting disorders; fetal and postnatal development; BECKWITH-WIEDEMANN SYNDROME; METHYLATION ANALYSIS REVEALS; IMPRINTING CENTER REGION; DNA METHYLATION; CHROMOSOME; 11P15; GENE-EXPRESSION; LOCI; INDIVIDUALS; EPIMUTATION; MECHANISM;

D O I：

10.1002/humu.22623

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Russell Silver Syndrome (RSS) is a p natal and postnatal growth retardation syndrome caused mainly by 11p15 ICR1 hypomethylat on. Clinical presentation is heterogeneous in RSS patients with 11p15 ICR1 hypornethylation. We previously identified a subset of RSS patients with 11p15 ICRI and multilocus bypomethylation. Here, we examine the relationships be tw en IGF2 expression, 11p15 ICR1 rnethylation, and multilocus imprinting defects in various cell types from 39RSS patients with 11p15 ICR1 hypomethylation in eu k ocyte DNA. 11p15 ICItl hypomethylation was more pronounced in leukocytes than in buccal mucosa cells. Skin fibroblast IGF2 expression was correlated with the degree of ICR1 hypomethylation. Different tissue-specific rnultilocus naethylation defects coexisted in 3896 of cases, with some loci hypomethylated and others hypermethyfated within the same cell type in some cases. Our new results suggest that tissue-specific epigenotypes may lead to clinical heterogeneity in RSS. (C) 2014 wiley periodicals Inc.

引用

页码：1211 / 1220

页数：10

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