Article
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics - 1 Nov 2017
Jin Sheng Chih, Homsy Jason, Zaidi Samir, Lu Qiongshi, Morton Sarah, DePalma Steven R, Zeng Xue, Qi Hongjian, Chang Weni, Sierant Michael C, Hung Wei-Chien, Haider Shozeb, Zhang Junhui, Knight James, Bjornson Robert D, Castaldi Christopher, Tikhonoa Irina R, Bilguvar Kaya, Mane Shrikant M, Sanders Stephan J, Mital Seema, Russell Mark W, Gaynor J William, Deanfield John, Giardini Alessandro, Porter George A, Srivastava Deepak, Lo Cecelia W, Shen Yufeng, Watkins W Scott, Yandell Mark, Yost H Joseph, Tristani-Firouzi Martin, Newburger Jane W, Roberts Amy E, Kim Richard, Zhao Hongyu, Kaltman Jonathan R, Goldmuntz Elizabeth, Chung Wendy K, Seidman Jonathan G, Gelb Bruce D, Seidman Christine E, Lifton Richard P, Brueckner Martina
Abstract excerpt
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...
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