ArticleJournal of medical genetics2013
Paternal deletion of the 11p15.5 centromeric-imprinting control region is associated with alteration of imprinted gene expression and recurrent severe intrauterine growth restriction.
Article in Journal of medical genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Advances and challenges of precision epigenetic therapy in treating genomic imprinting diseases.Translational pediatrics · 2026Review
- Review
- A 132 bp deletion affecting theJournal of medical genetics · 2023Article
- Article
- Deregulation of imprinted genes expression and epigenetic regulators in placental tissue from intrauterine growth restriction.Journal of assisted reproduction and genetics · 2021Article
- Unusual deletion of the maternal 11p15 allele in Beckwith-Wiedemann syndrome with an impact on both imprinting domains.Clinical epigenetics · 2021Article
- 11p15.4 Microdeletion Associates with Hemihypertrophy.Case reports in genetics · 2018Article
- EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.European journal of human genetics : EJHG · 2016Article
- Effects of Gold Nanorods on Imprinted Genes Expression in TM-4 Sertoli Cells.International journal of environmental research and public health · 2016Article
- Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci.Clinical epigenetics · 2015Review
- Looking for CDKN1C enhancers.European journal of human genetics : EJHG · 2014Article
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Authors and funding
9 authors.
Funding
Abstract
backgroundHeterogeneous molecular defects affecting the 11p15.5 imprinted gene cluster are associated with the opposite growth disorders Beckwith-Wiedemann Syndrome (BWS) and Silver Russell syndrome (SRS). Maternal deletions of the centromeric domain usually result in BWS, but paternal deletions have been so far associated with normal phenotype. Here we describe a case of recurrent severe Intra-Uterine Growth Restriction (IUGR) with paternal transmission of an 11p15.5 60 kb deletion. METHODS AND
resultsChromosome microarray (CMA), PCR and DNA sequencing analyses showed that two fetuses conceived by a normal couple inherited from their father a 60 kb deletion encompassing the Imprinting Control Region of the 11p15.5 centromeric domain. The two fetuses died in utero with severe growth restriction. PCR amplification of parental DNAs indicated that the father carried the mutation in the mosaic state. DNA methylation and gene expression analyses showed that the deletion led to an imprinting alteration restricted to the centromeric domain and resulting in silencing of KCNQ1OT1 and activation of CDKN1C and PHLDA2.
conclusionsOur data demonstrate that the phenotype associated with 11p15.5 deletions is strongly influenced by the size of the region involved and indicate imprinting defects leading to CDKN1C and PHLDA2 activation as cause of severe IUGR.
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