Novel missense variant in TTN cosegregating with familial atrioventricular block.

Guohui Liu, Ziying Yang, Weiwei Chen, Junguang Xu, Liangwei Mao, Qinlin Yu, Jian Guo, Hui Xu, Fengxia Liu, Yan Sun, Hui Huang, Zhiyu Peng, Jun Sun, Wei Li, Ping Yang

DOI: 10.1016/j.ejmg.2019.103752

Journal: European journal of medical genetics

This paper reports a three-generation Chinese family with severe autosomal dominant cardiac AVB that has been ruled out as being caused by known genes mutations, and is the first to implicate TTN mutations as AVB disease causing in a Chinese pedigree.