Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome

We performed whole exome sequence (WES) to identify genetic modifiers on 184 individuals with 22q11.2 deletion syndrome (22q11DS), of whom 89 case subjects had severe congenital heart disease (CHD) and 95 control subjects had normal hearts. Three genes including JMJD1C (jumonji domain containing 1C), RREB1 (Ras responsive element binding protein 1), and SEC24C (SEC24 family member C) had rare (MAF < 0.001) predicted deleterious single-nucleotide variations (rdSNVs) in seven case subjects and no control subjects (p = 0.005; Fisher exact and permutation tests).

Source: The American Journal of Human Genetics - November 19, 2015 Category: Genetics & Stem Cells Authors: Tingwei Guo, Jonathan H. Chung, Tao Wang, Donna M. McDonald-McGinn, Wendy R. Kates, Wanda Hawuła, Karlene Coleman, Elaine Zackai, Beverly S. Emanuel, Bernice E. Morrow Tags: Report Source Type: research