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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Recent Advances in Imprinting Disorders

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DOI

  1. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Leucocytes Mutation load Declines with Age in Carriers of the m.3243A>G Mutation. A 10-year Prospective Cohort

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Targeted Gene Sequencing and Whole-Exome Sequencing in Autopsied Fetuses with Prenatally Diagnosed Kidney Anomalies

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Development, behaviour and autism in individuals with SMC1A variants

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Research output: Contribution to journalJournal articleResearchpeer-review

  • L Soellner
  • M Begemann
  • D J G Mackay
  • K Grønskov
  • Z Tümer
  • E R Maher
  • I K Temple
  • D Monk
  • A Riccio
  • A Linglart
  • I Netchine
  • T Eggermann
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Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ImpDis are characterized by the same types of mutations and epimutations, i.e. uniparental disomies, copy number variations, epimutations, and point mutations. Each ImpDis is associated with a specific imprinted locus, but the same imprinted region can be involved in different ImpDis. Additionally, even the same aberrant methylation patterns are observed in different phenotypes. As some ImpDis share clinical features, clinical diagnosis is difficult in some cases. The advances in molecular and clinical diagnosis of ImpDis help to circumvent these issues, and they are accompanied by an increasing understanding of the pathomechanism behind them. As these mechanisms have important roles for the etiology of other common conditions, the results in ImpDis research have a wider effect beyond the borders of ImpDis. For patients and their families, the growing knowledge contributes to a more directed genetic counseling of the families and personalized therapeutic approaches.

Original languageEnglish
JournalClinical Genetics
Volume91
Issue number1
Pages (from-to)3-13
Number of pages11
ISSN0009-9163
DOIs
Publication statusPublished - Jan 2017

    Research areas

  • DNA Copy Number Variations, Epigenesis, Genetic, Genetic Counseling, Genetic Diseases, Inborn, Genetic Loci, Genetic Testing, Genomic Imprinting, Humans, Mutation, Uniparental Disomy, Journal Article, Review

ID: 52668194