@Article{chd.12578,
AUTHOR = {Nelly Sabbaghian, Maria C. Digilio, Gillian M. Blue, Timothée Revil, David S. Winlaw, William D. Foulkes},
TITLE = {Analysis of <i>DICER1</i> in familial and sporadic cases of transposition of the great arteries},
JOURNAL = {Structural and Congenital Heart Disease},
VOLUME = {13},
YEAR = {2018},
NUMBER = {3},
PAGES = {401--406},
URL = {http://www.techscience.com/schd/v13n3/38988},
ISSN = {3071-1738},
ABSTRACT = {<b>Objective:</b> We previously identified a pathogenic germline <i>DICER1</i> variant in a child with transposition of the great arteries who was a member of a family with <i>DICER1</i> syndrome. In view of a
report linking <i>DICER1</i> knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of <i>DICER1</i> in transposition of the great arteries.<br/>
<b>Design:</b> We used Fluidigm access array followed by next generation sequencing to screen for variants in the coding exons, their exon/intron boundaries and the 30 untranslated region of DICER1
in patient DNA.<br/>
<b>Cases:</b> 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.<br/>
<b>Results:</b> Most cases (85%) did not have any germline <i>DICER1</i> 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.<br/>
<b>Conclusions:</b> Here, we report that neither likely pathogenic nor pathogenic variants in <i>DICER1</i>
appear to play a major role in transposition of the great arteries.},
DOI = {10.1111/chd.12578}
}