Article
Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.
Circulation. Cardiovascular genetics - 1 Oct 2017
Guo Tingwei, Repetto Gabriela M, McDonald McGinn Donna M, Chung Jonathan H, Nomaru Hiroko, Campbell Christopher L, Blonska Anna, Bassett Anne S, Chow Eva W C, Mlynarski Elisabeth E, Swillen Ann, Vermeesch Joris, Devriendt Koen, Gothelf Doron, Carmel Miri, Michaelovsky Elena, Schneider Maude, Eliez Stephan, Antonarakis Stylianos E, Coleman Karlene, Tomita-Mitchell Aoy, Mitchell Michael E, Digilio M Cristina, Dallapiccola Bruno, Marino Bruno, Philip Nicole, Busa Tiffany, Kushan-Wells Leila, Bearden Carrie E, Piotrowicz Małgorzata, Hawuła Wanda, Roberts Amy E, Tassone Flora, Simon Tony J, van Duin Esther D A, van Amelsvoort Thérèse A, Kates Wendy R, Zackai Elaine, Johnston H Richard, Cutler David J, Agopian A J, Goldmuntz Elizabeth, Mitchell Laura E, Wang Tao, Emanuel Beverly S, Morrow Bernice E
Abstract excerpt
BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. In our cohort of 1472 subjects with 22q11.2DS, a total of 62% (n=906) have congenital heart disease and 36% (n=326) of these have tetralogy of Fallot (TOF), comprising the largest...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.