A patient with multilocus imprinting disturbance involving hypomethylation at 11p15 and 14q32, and phenotypic features of Beckwith-Wiedemann and Temple syndromes

Am J Med Genet A. 2022 Jun;188(6):1896-1903. doi: 10.1002/ajmg.a.62717. Epub 2022 Mar 9.

Abstract

Beckwith-Wiedemann syndrome (BWS) and Temple syndrome (TS) are classical imprinting disorders (IDs) with nonconfluent clinical features. We report here on a patient with clinical features of both syndromes, in whom epimutations were found at the BWS and TS imprinted regions, consistent with multilocus imprinting disturbance (MLID). This is the first case report of a patient with clinical features of both conditions who was found to have loss of methylation (LOM) of KCNQ1OT1: TSS-DMR (ICR2) in the 11p15 imprinted region associated with BWS and LOM of MEG3: TSS-DMR in the 14q32 imprinted region associated with TS. The report draws attention to the importance of testing for MLID as a cause of atypical clinical presentations of patients with IDs.

Keywords: Beckwith-Wiedemann; Silver-Russell; Temple; imprinting; multilocus imprinting disturbance.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Beckwith-Wiedemann Syndrome* / diagnosis
  • Beckwith-Wiedemann Syndrome* / genetics
  • DNA Methylation
  • Genomic Imprinting / genetics
  • Humans
  • Silver-Russell Syndrome* / diagnosis
  • Silver-Russell Syndrome* / genetics
  • Uniparental Disomy / genetics