11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome
Walid Abi Habib
(1, 2)
,
Frederic Brioude
(1, 2)
,
Salah Azzi
(1, 3, 2)
,
Jennifer Salem
,
Cristina das Neves
(2)
,
Claire Personnier
(4)
,
Sandra Chantot-Bastaraud
(5, 2)
,
Boris Keren
(6)
,
Yves Le Bouc
(1, 2)
,
Madeleine D Harbison
(7)
,
Irene Netchine
(1, 2)
Jennifer Salem
- Fonction : Auteur
Sandra Chantot-Bastaraud
- Fonction : Auteur
- PersonId : 1182915
- IdHAL : sandra-chantot-bastaraud
- ORCID : 0000-0001-6446-3504
- IdRef : 090950348
Madeleine D Harbison
- Fonction : co dernier-auteur
Irene Netchine
Connectez-vous pour contacter l'auteur
- Fonction : Auteur correspondant
- PersonId : 906467
- ORCID : 0000-0003-1324-3389
- IdRef : 066932882
Connectez-vous pour contacter l'auteur
Résumé
The 11p15 region harbors the IGF2/H19 imprinted domain, implicated in fetal and postnatal growth. Silver-Russell syndrome (SRS) is characterized by fetal and postnatal growth failure, and is caused principally by hypomethylation of the 11p15 imprinting control region 1 (ICR1). However, the mechanisms leading to ICR1 hypomethylation remain unknown. Maternally inherited genetic defects affecting the ICR1 domain have been associated with ICR1 hypermethylation and Beckwith-Wiedemann Syndrome (an overgrowth syndrome, the clinical and molecular mirror of SRS), and paternal deletions of IGF2 enhancers have been detected in four SRS patients. However, no paternal deletions of ICR1 have ever been associated with hypomethylation of the IGF2/H19 domain in SRS. We screened for new genetic defects within the ICR1 in a cohort of 234 SRS patients with hypomethylated IGF2/H19 domain. We report deletions close to the boundaries of ICR1 on the paternal allele in one familial and two sporadic cases of SRS with ICR1 hypomethylation. These deletions are associated with hypomethylation of the remaining CBS, and decreased IGF2 expression. These results suggest that these
Format du dépôt | Fichier |
---|---|
Type de dépôt | Article dans une revue |
Résumé |
en
The 11p15 region harbors the IGF2/H19 imprinted domain, implicated in fetal and postnatal growth. Silver-Russell syndrome (SRS) is characterized by fetal and postnatal growth failure, and is caused principally by hypomethylation of the 11p15 imprinting control region 1 (ICR1). However, the mechanisms leading to ICR1 hypomethylation remain unknown. Maternally inherited genetic defects affecting the ICR1 domain have been associated with ICR1 hypermethylation and Beckwith-Wiedemann Syndrome (an overgrowth syndrome, the clinical and molecular mirror of SRS), and paternal deletions of IGF2 enhancers have been detected in four SRS patients. However, no paternal deletions of ICR1 have ever been associated with hypomethylation of the IGF2/H19 domain in SRS. We screened for new genetic defects within the ICR1 in a cohort of 234 SRS patients with hypomethylated IGF2/H19 domain. We report deletions close to the boundaries of ICR1 on the paternal allele in one familial and two sporadic cases of SRS with ICR1 hypomethylation. These deletions are associated with hypomethylation of the remaining CBS, and decreased IGF2 expression. These results suggest that these
|
Titre |
en
11p15 ICR1 Partial Deletions Associated with IGF2/H19 DMR Hypomethylation and Silver-Russell Syndrome
|
Auteur(s) |
Walid Abi Habib
1, 2
, Frederic Brioude
1, 2
, Salah Azzi
1, 3, 2
, Jennifer Salem
, Cristina das Neves
2
, Claire Personnier
4
, Sandra Chantot-Bastaraud
5, 2
, Boris Keren
6
, Yves Le Bouc
1, 2
, Madeleine D Harbison
7
, Irene Netchine
1, 2
1
CRSA -
Centre de Recherche Saint-Antoine
( 541912 )
- Bâtiment Kourilsky
34 rue Crozatier
75012 PARIS
Sorbonne Université
27 rue Chaligny
75012 PARIS
- France
2
CHU Trousseau [APHP]
( 360410 )
- 26 Avenue du Dr Arnold Netter, 75012 Paris
- France
3
The Babraham Institute [Cambridge, UK]
( 241009 )
- Babraham Hall, Babraham, Cambridge CB22 3AT
- Royaume-Uni
4
CHI Poissy-Saint-Germain
( 301351 )
-
- France
5
U933 -
Maladies génétiques d'expression pédiatrique
( 1081006 )
- UF de Génétique clinique et moléculaire
Sorbonne Université
AP-HP Hôpital d'Enfants Armand-Trousseau
26 avenue du Docteur Arnold Netter
75012 PARIS CEDEX 12
- France
6
ICM -
Institut du Cerveau = Paris Brain Institute
( 542029 )
- 47-83 Boulevard de l'Hôpital 75651 Paris Cedex 13
- France
7
MSSM -
Icahn School of Medicine at Mount Sinai [New York]
( 354552 )
- 1 Gustave L. Levy Place
New York, NY 10029-5674
- États-Unis
|
Langue du document |
Anglais
|
Nom de la revue |
|
Date de publication |
2017-01
|
Volume |
38
|
Numéro |
1
|
Page/Identifiant |
105-111
|
Vulgarisation |
Non
|
Comité de lecture |
Oui
|
Audience |
Internationale
|
Domaine(s) |
|
Financement |
|
Mots-clés |
en
IGF2/H19 imprinted domain, imprinting control region 1, deletions, hypomethylation, Silver-Russell syndrome
|
DOI | 10.1002/humu.23131 |
Pubmed Id | 27701793 |
UT key WOS | 000390349700013 |
Origine :
Fichiers produits par l'(les) auteur(s)
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