RT Journal Article SR Electronic T1 Analysis of DICER1 in familial and sporadic cases of Transposition of the Great Arteries JF bioRxiv FD Cold Spring Harbor Laboratory SP 125633 DO 10.1101/125633 A1 Nelly Sabbaghian A1 M. Cristina Digilio A1 Gillian M Blue A1 David S. Winlaw A1 William D Foulkes YR 2017 UL http://biorxiv.org/content/early/2017/04/07/125633.abstract 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