LIT1 and H19 methylation defects in isolated hemihyperplasia.
We performed LIT1 and H19 methylation studies on 27 children with isolated hemihyperplasia (IH). Eight children (29.6%) had a defect in methylation of one or both of these alleles, supporting our hypothesis that these epigenetic changes can result in a phenotype distinct from typical Beckwith-Wiedemann syndrome.
Martin
Rick A
RA
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri, USA. martin_r@kids.wustl.edu
Grange
Dorothy K
DK
Zehnbauer
Babara
B
Debaun
Michael R
MR
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D000293:Adolescent; D001506:Beckwith-Wiedemann Syndrome / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D001827:Body Height / Q000235:genetics; D001835:Body Weight / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D019175:DNA Methylation; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated / Q000235:genetics*; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics*; D024182:Uniparental Disomy
C094335:H19 long non-coding RNA; C485621:KCNQ1OT1 long non-coding RNA, human; D008565:Membrane Proteins; D024642:Potassium Channels, Voltage-Gated; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated