Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries

Nelly Sabbaghian, Maria C Digilio, Gillian M Blue, Timothée Revil, David S Winlaw, William D Foulkes

Research output: Contribution to journalArticlepeer-review


OBJECTIVE: We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. In view of a report linking Dicer1 knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in transposition of the great arteries.

DESIGN: We used Fluidigm access array followed by next generation sequencing to screen for variants in the coding exons, their exon/intron boundaries and the 3' untranslated region of DICER1 in patient DNA.

CASES: Germline DNA was collected from 129 patients with either sporadic or familial forms of transposition of the great arteries from two sites in Australia and Italy.

RESULTS: Most cases (85%) did not have any germline DICER1 variants. In the remaining 15% of cases, we identified 16 previously reported variants (5 synonymous, 6 intronic, and 5 missense) and 2 novel variants (1 intronic and 1 missense). None of the identified variants were predicted to be pathogenic.

CONCLUSIONS: Here, we report that neither likely pathogenic nor pathogenic variants in DICER1 appear to play a major role in transposition of the great arteries.

Original languageEnglish
Pages (from-to)401-406
Number of pages6
JournalCongenital Heart Disease
Issue number3
Publication statusPublished - May 2018


  • Child
  • DEAD-box RNA Helicases/genetics
  • DNA/genetics
  • DNA Mutational Analysis
  • Exons
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Incidence
  • Italy/epidemiology
  • Male
  • Mutation
  • New South Wales/epidemiology
  • Pedigree
  • Ribonuclease III/genetics
  • Transposition of Great Vessels/epidemiology


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