LETTER TO JMG

Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

E R Maher^1,2, L A Brueton^1,2, S C Bowdin², A Luharia², W Cooper¹, T R Cole^1,2, F Macdonald^1,2, J R Sampson³, C L Barratt⁴, W Reik⁵, M M Hawkins⁶

¹ Section of Medical and Molecular Genetics, University of Birmingham, Birmingham B15 2TT, UK
² West Midlands Genetics Service, Birmingham Women’s Hospital, Edgbaston, Birmingham B15 2TG, UK
³ Institute of Medical Genetics for Wales, University of Wales College of Medicine, Cardiff CF14 4XN, UK
⁴ Reproductive Biology and Genetics Group, University of Birmingham, The Medical School, Birmingham B15 2TT, UK
⁵ Laboratory of Developmental Genetics and Imprinting, The Babraham Institute, Babraham Hall, Babraham, Cambridge CB2 4AT, UK
⁶ Centre for Childhood Cancer Survivor Studies, Department of Public Health & Epidemiology, The University of Birmingham, Edgbaston, Birmingham B15 2TT, UK

Correspondence to:
Correspondence to:
Professor E R Maher, Section of Medical and Molecular Genetics, University of Birmingham, Birmingham B15 2TT, UK;
e.r.maher@bham.ac.uk

Keywords: Beckwith-Wiedemann syndrome; ICSI; IVF; imprinting; methylation

The first 150 words of the full text of this article appear below.

Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epimutations affecting imprinted genes on chromosome 11p15.5.¹ The classical clinical features of BWS are macroglossia, pre- and/or postnatal overgrowth, and anterior abdominal wall defects (umbilical hernia or exomphalos). Additional more variable features include hemihypertrophy, neonatal hypoglycaemia, facial naevus flammeus, ear pits and creases, renal anomalies, and an increased risk of embryonal tumours.² Most cases of BWS are sporadic and 20% of these have uniparental disomy (paternal isodisomy) for a variable region of chromosome 11 which always includes the 11p15.5 imprinted gene cluster.^3–5 Up to 60% of sporadic BWS patients have epigenetic changes at differentially methylated regions within 11p15.5 that are associated with alterations in the imprinting or expression of paternally expressed genes, such as IGF2 and KCNQ1OT, or maternally expressed genes, such as H19 and CDKN1C.¹ Thus, 5–10% have epigenetic alterations at the IGF2/H19 . . . [Full text of this article]

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Re: Beckwith-Wiedemann syndrome and assisted reproduction technology (ART)

Alan Gibbs

J Med Genet, 7 Oct 2003 [Full text]