PT - JOURNAL ARTICLE AU - Nelly Sabbaghian AU - M. Cristina Digilio AU - Gillian M Blue AU - David S. Winlaw AU - William D Foulkes TI - Analysis of <em>DICER1</em> in familial and sporadic cases of Transposition of the Great Arteries AID - 10.1101/125633 DP - 2017 Jan 01 TA - bioRxiv PG - 125633 4099 - http://biorxiv.org/content/early/2017/04/07/125633.short 4100 - http://biorxiv.org/content/early/2017/04/07/125633.full AB - Background DICER1 plays a major role in development and in generating mature microRNAs that are important in gene expression. We screened for DICER1 mutations in a family with DICER1 syndrome and we discovered a pathogenic mutation in a child with transposition of the great arteries (TGA). In view of a report linking DICER1 knock-out in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in TGA.Findings We screened 129 germline DNA samples from children with either sporadic or familial forms of TGA for DICER1 mutations using a Fluidigm access array, followed by next-generation sequencing. We identified 16 previously reported variants (5 synonymous, 6 intronic, and 5 missense) and 2 novel variants (1 intronic and 1 missense). We did not find any apparent pathological mutation in our cohort.Conclusion Here we report that DICER1 mutations do not appear to play a major role in TGA.TGATransposition of the great arteriesmiRNAmicroRNAsCHDcongenital heart defect