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

共 48 条

[1] ICR1 epimutations in 11p15 are restricted to patients with Silver-Russell syndrome features
Eggermann, Thomas
Meyer, Esther
Caglayan, A. Okay
Dundar, Munis
Schoenherr, N.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2008, 21 (01): : 59 - 62
[2] 11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome
Habib, Walid Abi
Brioude, Frederic
Azzi, Salah
Salem, Jennifer
Das Neves, Cristina
Personnier, Claire
Chantot-Bastaraud, Sandra
Keren, Boris
Le Bouc, Yves
Harbison, Madeleine D.
Netchine, Irene
HUMAN MUTATION, 2017, 38 (01) : 105 - 111
[3] Screening of DNA Methylation at the H19 Promoter or the Distal Region of its ICR1 Ensures Efficient Detection of Chromosome 11p15 Epimutations in Russell-Silver Syndrome
Horike, Shin-Ichi
Ferreira, Jose Carlos P.
Meguro-Horike, Makiko
Choufani, Sanaa
Smith, Adam C.
Shuman, Cheryl
Meschino, Wendy
Chitayat, David
Zackai, Elaine
Scherer, Stephen W.
Weksberg, Rosanna
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (11) : 2415 - 2423
[4] Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome
Higashimoto, Ken
Watanabe, Hijiri
Tanoue, Yuka
Tonoki, Hidefumi
Tokutomi, Tomoharu
Hara, Satoshi
Yatsuki, Hitomi
Soejima, Hidenobu
JOURNAL OF MEDICAL GENETICS, 2021, 58 (06) : 422 - 425
[5] 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
[6] First report on concordant monozygotic twins with Silver-Russell syndrome and ICR1 hypomethylation
Riess, Angelika
Binder, Gerhard
Ziegler, Julian
Begemann, Matthias
Soellner, Lukas
Eggermann, Thomas
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2016, 59 (01) : 1 - 4
[7] 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
[8] Post-receptor IGF-1 insensitivity restricted to the MAPK pathway in a Silver-Russell syndrome (SRS) patient with hypomethylation at the imprinting control region (ICR1) on chromosome 11p15
Montenegro, Luciana M.
Leal, Andrea C.
Coutinho, Debora C.
Mendonca, Berenice B.
Arnhold, Ivo J. P.
Jorge, Alexander A. L.
HORMONE RESEARCH, 2009, 72 : 240 - 241
[9] Atypical Silver Russell Syndrome and 11p15 imprinting abnormalities
Tatton-Brown, Katrina
Scott, R.
Homfray, T.
Thilaganathan, B.
Rahman, N.
Mansour, S.
JOURNAL OF MEDICAL GENETICS, 2007, 44 : S61 - S61
[10] 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

← 1 2 3 4 5 →