Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

Louise Tee; Derek Hk Lim; Renuka P Dias; Marie-Odile Baudement; Amy A Slater; Gail Kirby; Tom Hancocks; Helen Stewart; Carol Hardy; Fiona Macdonald; Eamonn R Maher

doi:10.1186/1868-7083-5-23

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

Louise Tee, Derek Hk Lim, Renuka P Dias, Marie-Odile Baudement, Amy A Slater, Gail Kirby, Tom Hancocks, Helen Stewart, Carol Hardy, Fiona Macdonald, Eamonn R Maher

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32 Citations (Scopus)

Abstract

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an association with conception after assisted reproductive technologies (ART) has been reported. A subgroup of IC2 epimutation cases also harbour epimutations at other imprinting centres (ICs) outside of 11p15.5. We have investigated the relationship between these multiple epimutation cases (ME+), history of ART and clinical phenotype in a cohort of 187 BWS IC2 epimutation patients.

Original language	English
Article number	23
Journal	Clinical epigenetics
Volume	5
DOIs	https://doi.org/10.1186/1868-7083-5-23
Publication status	Published - 10 Dec 2013

Keywords

Beckwith-Wiedemann syndrome
Assisted reproductive technology
Imprinting
Genetics

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title = "Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology",

abstract = "Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an association with conception after assisted reproductive technologies (ART) has been reported. A subgroup of IC2 epimutation cases also harbour epimutations at other imprinting centres (ICs) outside of 11p15.5. We have investigated the relationship between these multiple epimutation cases (ME+), history of ART and clinical phenotype in a cohort of 187 BWS IC2 epimutation patients.",

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TY - JOUR

T1 - Epimutation profiling in Beckwith-Wiedemann syndrome

T2 - relationship with assisted reproductive technology

AU - Tee, Louise

AU - Lim, Derek Hk

AU - Dias, Renuka P

AU - Baudement, Marie-Odile

AU - Slater, Amy A

AU - Kirby, Gail

AU - Hancocks, Tom

AU - Stewart, Helen

AU - Hardy, Carol

AU - Macdonald, Fiona

AU - Maher, Eamonn R

PY - 2013/12/10

Y1 - 2013/12/10

N2 - Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an association with conception after assisted reproductive technologies (ART) has been reported. A subgroup of IC2 epimutation cases also harbour epimutations at other imprinting centres (ICs) outside of 11p15.5. We have investigated the relationship between these multiple epimutation cases (ME+), history of ART and clinical phenotype in a cohort of 187 BWS IC2 epimutation patients.

AB - Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an association with conception after assisted reproductive technologies (ART) has been reported. A subgroup of IC2 epimutation cases also harbour epimutations at other imprinting centres (ICs) outside of 11p15.5. We have investigated the relationship between these multiple epimutation cases (ME+), history of ART and clinical phenotype in a cohort of 187 BWS IC2 epimutation patients.

KW - Beckwith-Wiedemann syndrome

KW - Assisted reproductive technology

KW - Imprinting

KW - Genetics

U2 - 10.1186/1868-7083-5-23

DO - 10.1186/1868-7083-5-23

M3 - Article

C2 - 24325814

SN - 1868-7075

VL - 5

JO - Clinical epigenetics

JF - Clinical epigenetics

M1 - 23

ER -

Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

Abstract

Keywords

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