Article
Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.
Orphanet journal of rare diseases - 30 Oct 2019
Jiang Qian, Wang Yang, Li Qi, Zhang Zhen, Xiao Ping, Wang Hui, Liu Na, Wu Jian, Zhang Feng, Chakravarti Aravinda, Cai Wei, Li Long
Abstract excerpt
BACKGROUND: Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by the absence of enteric ganglia in the distal part of the gut. RET is the major causative gene and contains > 80% of all known disease-causing mutations. RESULTS: To determine the incidence of RET pathogenic variants, be they Mendelian inherited, mosaic in parents or true de novo variants (DNVs) in 117 Chinese families, we...
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