Article
A Novel Inherited Mutation in PRKAR1A Abrogates PreRNA Splicing in a Carney Complex Family.
The Canadian journal of cardiology - 1 Nov 2015
Sun Yunpeng, Chen Xia, Sun Jingnan, Wen Xue, Liu Xuguang, Zhang Yanli, Hoffman Andrew R, Hu Ji-Fan, Gao Yongsheng
Abstract excerpt
BACKGROUND: Carney complex (CNC) is an autosomal dominant inherited disease, characterized by spotty skin pigmentation, cardiac and cutaneous myxomas, and endocrine overactivity. We report on a Chinese CNC family with a novel mutation in the protein kinase A regulatory subunit 1 (PRKAR1A) gene. METHODS: Target-exome sequencing was performed to identify the mutation of PRKAR1A in 2 members of the CNC family....
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