ePrints Repository

Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

Meyer, Esther and Lim, Derek and Pasha, Shanaz and Tee, Louise J and Rahman, Fatima and Yates, John R.W and Woods, C. Geoffrey and Reik, Wolf and Maher, Eamonn R (2009) Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). PloS Genetics, 5 (3). ISSN 1553-7390

Loading
PDF (197Kb)

URL of Published Version: http://www.plosgenetics.org/article/info:doi%2F10.1371%2Fjournal.pgen.1000423

Identification Number/DOI: :10.1371/journal.pgen.1000423

Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from the deregulation of a number of genes, including IGF2 and CDKN1C, in the imprinted gene cluster on chromosome 11p15.5. Most cases are sporadic and result from epimutations at either of the two 11p15.5 imprinting centres (IC1 and IC2). However, rare familial cases may be associated with germline 11p15.5 deletions causing abnormal imprinting in cis. We report a family with BWS and an IC2 epimutation in which affected siblings had inherited different parental 11p15.5 alleles excluding an in cis mechanism. Using a positional-candidate gene approach, we found that the mother was homozygous for a frameshift mutation in exon 6 of NLRP2. While germline mutations in NLRP7 have previously been associated with familial hydatidiform mole, this is the first description of NLRP2 mutation in human disease and the first report of a trans mechanism for disordered imprinting in BWS. These observations are consistent with the hypothesis that NLRP2 has a previously unrecognised role in establishing or maintaining genomic imprinting in humans.

Type of Work:Article
Date:20 March 2009 (Publication)
School/Faculty:Colleges (2008 onwards) > College of Medical & Dental Sciences
Department:Department of Medical and Molecular Genetics, Institute of Biomedical Research,
Subjects:Q Science (General)
R Medicine (General)
Institution:University of Birmingham
Copyright Holders:Public Library of Science
ID Code:250
Refereed:YES
Local Holdings:
Export Reference As : ASCII + BibTeX + Dublin Core + EndNote + HTML + METS + MODS + OpenURL Object + Reference Manager + Refer + RefWorks
Share this item :
QR Code for this page

Repository Staff Only: item control page