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Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling
Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.
1018-4813
784-793
Eggermann, Thomas
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Brioude, Frédéric
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Russo, Silvia
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Lombardi, Maria P.
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Bliek, Jet
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Maher, Eamonn R
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Larizza, Lidia
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Prawitt, Dirk
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Netchine, Irène
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Gonzales, Marie
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Grønskov, Karen
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Tümer, Zeynep
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Monk, David
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Mannens, Marcel
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Chrzanowska, Krystyna
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Walasek, Malgorzata K
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Begemann, Matthias
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Soellner, Lukas
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Eggermann, Katja
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Tenorio, Jair
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Nevado, Julián
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Moore, Gudrun E
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Mackay, Deborah JG
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Temple, Karen
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Gillessen-Kaesbach, Gabriele
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Ogata, Tsutomu
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Algar, Elizabeth
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Lapunzina, Pablo
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Eggermann, Thomas
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Brioude, Frédéric
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Russo, Silvia
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Lombardi, Maria P.
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Bliek, Jet
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Maher, Eamonn R
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Larizza, Lidia
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Prawitt, Dirk
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Netchine, Irène
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Gonzales, Marie
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Grønskov, Karen
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Tümer, Zeynep
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Monk, David
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Mannens, Marcel
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Chrzanowska, Krystyna
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Walasek, Malgorzata K
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Begemann, Matthias
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Soellner, Lukas
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Eggermann, Katja
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Tenorio, Jair
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Nevado, Julián
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Moore, Gudrun E
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Mackay, Deborah JG
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Temple, Karen
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Gillessen-Kaesbach, Gabriele
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Ogata, Tsutomu
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Weksberg, Rosanna
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Algar, Elizabeth
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Lapunzina, Pablo
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Eggermann, Thomas, Brioude, Frédéric and Russo, Silvia et al. (2016) Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling. European Journal of Human Genetics, 24 (6), 784-793. (doi:10.1038/ejhg.2015.224).

Record type: Article

Abstract

Beckwith–Wiedemann and Silver–Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders.

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More information

Accepted/In Press date: 11 September 2015
e-pub ahead of print date: 28 October 2015
Published date: June 2016
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 383500
URI: http://eprints.soton.ac.uk/id/eprint/383500
ISSN: 1018-4813
PURE UUID: e2061378-ed4b-491f-ac2c-5e917928ba71
ORCID for Deborah JG Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 17 Nov 2015 11:59
Last modified: 17 Dec 2019 01:54

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Contributors

Author: Thomas Eggermann
Author: Frédéric Brioude
Author: Silvia Russo
Author: Maria P. Lombardi
Author: Jet Bliek
Author: Eamonn R Maher
Author: Lidia Larizza
Author: Dirk Prawitt
Author: Irène Netchine
Author: Marie Gonzales
Author: Karen Grønskov
Author: Zeynep Tümer
Author: David Monk
Author: Marcel Mannens
Author: Krystyna Chrzanowska
Author: Malgorzata K Walasek
Author: Matthias Begemann
Author: Lukas Soellner
Author: Katja Eggermann
Author: Jair Tenorio
Author: Julián Nevado
Author: Gudrun E Moore
Author: Karen Temple ORCID iD
Author: Gabriele Gillessen-Kaesbach
Author: Tsutomu Ogata
Author: Rosanna Weksberg
Author: Elizabeth Algar
Author: Pablo Lapunzina

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