Article
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects.
American journal of human genetics - 2 Jan 2020
Zhao Yingjie, Diacou Alexander, Johnston H Richard, Musfee Fadi I, McDonald-McGinn Donna M, McGinn Daniel, Crowley T Blaine, Repetto Gabriela M, Swillen Ann, Breckpot Jeroen, Vermeesch Joris R, Kates Wendy R, Digilio M Cristina, Unolt Marta, Marino Bruno, Pontillo Maria, Armando Marco, Di Fabio Fabio, Vicari Stefano, van den Bree Marianne, Moss Hayley, Owen Michael J, Murphy Kieran C, Murphy Clodagh M, Murphy Declan, Schoch Kelly, Shashi Vandana, Tassone Flora, Simon Tony J, Shprintzen Robert J, Campbell Linda, Philip Nicole, Heine-Suñer Damian, García-Miñaúr Sixto, Fernández Luis, Bearden Carrie E, Vingerhoets Claudia, van Amelsvoort Therese, Eliez Stephan, Schneider Maude, Vorstman Jacob A S, Gothelf Doron, Zackai Elaine, Agopian A J, Gur Raquel E, Bassett Anne S, Emanuel Beverly S, Goldmuntz Elizabeth, Mitchell Laura E, Wang Tao, Morrow Bernice E
Abstract excerpt
The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardiac anatomy. In this study, we tested whether variants in the hemizygous LCR22A-D region are...
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