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BMC Medical Genetics

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Open Access 01-12-2012 | Case report

Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

Authors: Rinki Murphy, Deborah Mackay, Ed A Mitchell

Published in: BMC Medical Genetics | Issue 1/2012

Abstract

Background

Loss of methylation (LOM) at imprinting control region (ICR) 1 or LOM at ICR 2 on chromosome 11p15 in leucocyte DNA is commonly used to diagnose the imprinting disorders Silver Russell syndrome (SRS) characterized by growth restriction or Beckwith Wiedemann syndrome (BWS) characterized by overgrowth, respectively.

Case presentation

A child was normally conceived and born by caesarian section to a healthy 19 year old smoking mother (G2P1) at 38 weeks gestation, with SGA (birthweight SDS −2.44), placenta weight 250g (normal histology), with an umbilical hernia and transient neonatal hypoglycemia but no other features of BWS.

The methylation status at 11p15 region was initially investigated by multiplex ligation dependent probe amplification (MLPA). Subsequently, methylation-specific (ms) PCR was performed to screen for this and other imprinted loci abnormalities at PLAG1 (6q24), IGF2R (6q27), GRB10 (7p12), PEG1/MEST (7q32), DLK1 (14q32), SNRPN (15q11); PEG3 (19q32), NESPAS/GNAS (20q13).

Leucocyte DNA methylation was normal at ICR1 but markedly reduced at ICR2 using both MLPA and ms-PCR, and no other anomalies of imprinting were detected. Buccal DNA methylation was normal at all imprinted sites tested.

Conclusion

This is the first report of an isolated LOM at ICR2 in leucocyte but not buccal DNA in a normally conceived singleton SGA child without overt SRS or BWS.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/13/99/prepub

Title: Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age
Authors: Rinki Murphy
Deborah Mackay
Ed A Mitchell
Publication date: 01-12-2012
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2012
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-13-99

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Beckwith Wiedemann imprinting defect found in leucocyte but not buccal DNA in a child born small for gestational age

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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