Your browser doesn't support javascript.
loading
Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders.
Lee, Sunwoo; Ochoa, Eguzkine; Barwick, Katy; Cif, Laura; Rodger, Fay; Docquier, France; Pérez-Dueñas, Belén; Clark, Graeme; Martin, Ezequiel; Banka, Siddharth; Kurian, Manju A; Maher, Eamonn R.
Affiliation
  • Lee S; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.
  • Ochoa E; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.
  • Barwick K; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, WC1N 1DZ, UK.
  • Cif L; Departement de Neurochirurgie, Unite des Pathologies Cerebrales Resistantes, Unite de Recherche sur les Comportements et Mouvements Anormaux, Hopital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France, & Faculte de Medecine, Universite de Montpellier, France.
  • Rodger F; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.
  • Docquier F; Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • Pérez-Dueñas B; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.
  • Clark G; Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • Martin E; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, WC1N 1DZ, UK.
  • Banka S; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.
  • Kurian MA; Stratified Medicine Core Laboratory NGS Hub, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.
  • Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge, CB2 0QQ, UK.
Epigenomics ; 14(9): 537-547, 2022 05.
Article in En | MEDLINE | ID: mdl-35506254
The authors compared the DNA methylation patterns in blood from individuals with two rare neurodevelopmental disorders (childhood-onset dystonia [DYT-KMT2B] and Kabuki syndrome type 1) and healthy control samples. These two disorders are associated with pathogenic variants in KMT2B and KMT2D, which encode proteins with related functions but cause distinct inherited disorders. Comparison of the methylation patterns in the two disorders showed that most DNA regions with altered methylation patterns differed between the two disorders and controls. These findings suggest that analyzing DNA methylation patterns could improve diagnostic testing for these disorders and might provide insights into how the clinical features of these disorders are caused.
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Vestibular Diseases / Histone-Lysine N-Methyltransferase / DNA Methylation / DNA-Binding Proteins / Face / Hematologic Diseases / Neoplasm Proteins Limits: Humans Language: En Journal: Epigenomics Year: 2022 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Vestibular Diseases / Histone-Lysine N-Methyltransferase / DNA Methylation / DNA-Binding Proteins / Face / Hematologic Diseases / Neoplasm Proteins Limits: Humans Language: En Journal: Epigenomics Year: 2022 Document type: Article Affiliation country: United kingdom Country of publication: United kingdom