Ontology highlight
ABSTRACT:
SUBMITTER: Jin SC
PROVIDER: S-EPMC5675000 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Jin Sheng Chih SC Homsy Jason J Zaidi Samir S Lu Qiongshi Q Morton Sarah S DePalma Steven R SR Zeng Xue X Qi Hongjian H Chang Weni W Sierant Michael C MC Hung Wei-Chien WC Haider Shozeb S Zhang Junhui J Knight James J Bjornson Robert D RD Castaldi Christopher C Tikhonoa Irina R IR Bilguvar Kaya K Mane Shrikant M SM Sanders Stephan J SJ Mital Seema S Russell Mark W MW Gaynor J William JW Deanfield John J Giardini Alessandro A Porter George A GA Srivastava Deepak D Lo Cecelia W CW Shen Yufeng Y Watkins W Scott WS Yandell Mark M Yost H Joseph HJ Tristani-Firouzi Martin M Newburger Jane W JW Roberts Amy E AE Kim Richard R Zhao Hongyu H Kaltman Jonathan R JR Goldmuntz Elizabeth E Chung Wendy K WK Seidman Jonathan G JG Gelb Bruce D BD Seidman Christine E CE Lifton Richard P RP Brueckner Martina M
Nature genetics 20171009 11
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for ∼5% of severe CHD in Ashkenazim, recessive genotypes in MYH6 accounting for ∼11% of Shone complex, and dominant FLT4 mutations accounting for 2.3% of Tetralogy of Fallot. De novo mutations (DNMs) account ...[more]