A novel large deletion of the ICR1 region including H19 and putative enhancer elements
Identifieur interne : 002212 ( Main/Exploration ); précédent : 002211; suivant : 002213A novel large deletion of the ICR1 region including H19 and putative enhancer elements
Auteurs : Helen Fryssira ; Stella Amenta [Grèce] ; Deniz Kanber [Allemagne] ; Christalena Sofocleous ; Evangelia Lykopoulou [Grèce] ; Christina Kanaka-Gantenbein [Grèce] ; Flavia Cerrato [Italie] ; Hermann-Josef Lüdecke [Allemagne] ; Susanne Bens [Allemagne] ; Andrea Riccio [Italie] ; Karin Buiting [Allemagne]Source :
- BMC Medical Genetics [ 1471-2350 ] ; 2015.
Abstract
Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder with a variable clinical phenotype caused by deregulation affecting imprinted genes in the chromosomal region 11p15. Alterations of the imprinting control region 1 (ICR1) at the
A male patient was born with hypotonia, facial dysmorphisms and hypoglycemia suggestive of Beckwith-Wiedemann syndrome. Using methylation-specific (MS)-MLPA (Multiplex ligation-dependent probe amplification) we have identified a maternally inherited large deletion of the ICR1 region in a patient and his mother. The deletion results in a variable clinical expression with a classical BWS in the mother and a more severe presentation of BWS in her son. By genome-wide SNP array analysis the deletion was found to span ~100 kb genomic DNA including the ICR1DMR,
We here report on a novel large familial deletion of the ICR1 region in a BWS family. Due to the deletion of the ICR1-DMR CTCF binding cannot take place and the residual enhancer elements have access to the
The online version of this article (doi:10.1186/s12881-015-0173-2) contains supplementary material, which is available to authorized users.
Url:
DOI: 10.1186/s12881-015-0173-2
PubMed: 25943194
PubMed Central: 4630834
Affiliations:
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Le document en format XML
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<author><name sortKey="Buiting, Karin" sort="Buiting, Karin" uniqKey="Buiting K" first="Karin" last="Buiting">Karin Buiting</name>
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder with a variable clinical phenotype caused by deregulation affecting imprinted genes in the chromosomal region 11p15. Alterations of the imprinting control region 1 (ICR1) at the <italic>IGF2/H19</italic>
locus resulting in biallelic expression of <italic>IGF2</italic>
and biallelic silencing of <italic>H19</italic>
account for approximately 10% of patients with BWS. The majority of these patients have epimutations of the ICR1 without detectable DNA sequence changes. Only a few patients were found to have deletions. Most of these deletions are small affecting different parts of the ICR1 differentially methylated region (ICR1-DMR) removing target sequences for CTCF. Only a very few deletions reported so far include the <italic>H19</italic>
gene in addition to the CTCF binding sites. None of these deletions include <italic>IGF2</italic>
.</p>
</sec>
<sec><title>Case presentation</title>
<p>A male patient was born with hypotonia, facial dysmorphisms and hypoglycemia suggestive of Beckwith-Wiedemann syndrome. Using methylation-specific (MS)-MLPA (Multiplex ligation-dependent probe amplification) we have identified a maternally inherited large deletion of the ICR1 region in a patient and his mother. The deletion results in a variable clinical expression with a classical BWS in the mother and a more severe presentation of BWS in her son. By genome-wide SNP array analysis the deletion was found to span ~100 kb genomic DNA including the ICR1DMR, <italic>H19</italic>
, two adjacent non-imprinted genes and two of three predicted enhancer elements downstream to <italic>H19</italic>
. Methylation analysis by deep bisulfite next generation sequencing revealed hypermethylation of the maternal allele at the <italic>IGF2</italic>
locus in both, mother and child, although <italic>IGF2</italic>
is not affected by the deletion.</p>
</sec>
<sec><title>Conclusions</title>
<p>We here report on a novel large familial deletion of the ICR1 region in a BWS family. Due to the deletion of the ICR1-DMR CTCF binding cannot take place and the residual enhancer elements have access to the <italic>IGF2</italic>
promoters. The aberrant methylation (hypermethylation) of the maternal <italic>IGF2</italic>
allele in both affected family members may reflect the active state of the normally silenced maternal <italic>IGF2</italic>
copy and can be a consequence of the deletion. The deletion results in a variable clinical phenotype and expression.</p>
</sec>
<sec><title>Electronic supplementary material</title>
<p>The online version of this article (doi:10.1186/s12881-015-0173-2) contains supplementary material, which is available to authorized users.</p>
</sec>
</div>
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</TEI>
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<li>Grèce</li>
<li>Italie</li>
</country>
<region><li>Attique (région)</li>
<li>Schleswig-Holstein</li>
</region>
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<li>Kiel</li>
</settlement>
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<name sortKey="Buiting, Karin" sort="Buiting, Karin" uniqKey="Buiting K" first="Karin" last="Buiting">Karin Buiting</name>
<name sortKey="Ludecke, Hermann Josef" sort="Ludecke, Hermann Josef" uniqKey="Ludecke H" first="Hermann-Josef" last="Lüdecke">Hermann-Josef Lüdecke</name>
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