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Region Hovedstaden - en del af Københavns Universitetshospital
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Recent Advances in Imprinting Disorders

Publikation: Bidrag til tidsskriftReviewForskningpeer review

DOI

  1. Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  1. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer 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
Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftClinical Genetics
Vol/bind91
Udgave nummer1
Sider (fra-til)3-13
Antal sider11
ISSN0009-9163
DOI
StatusUdgivet - jan. 2017

ID: 52668194