Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.

doi:10.1053/j.gastro.2018.09.012

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Article

Identification of Genes Associated With Hirschsprung Disease, Based on Whole-Genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.

Gastroenterology - 1 Dec 2018

Tang Clara Sze-Man, Li Peng, Lai Frank Pui-Ling, Fu Alexander Xi, Lau Sin-Ting, So Man Ting, Lui Kathy Nga-Chu, Li Zhixin, Zhuang Xuehan, Yu Michelle, Liu Xuelai, Ngo Ngoc D, Miao Xiaoping, Zhang Xi, Yi Bin, Tang Shaotao, Sun Xiaobing, Zhang Furen, Liu Hong, Liu Qiji, Zhang Ruizhong, Wang Hualong, Huang Liuming, Dong Xiao, Tou Jinfa, Cheah Kathryn Song-Eng, Yang Wanling, Yuan Zhenwei, Yip Kevin Yuk-Lap, Sham Pak-Chung, Tam Paul Kwang-Hang, Garcia-Barcelo Maria-Mercè, Ngan Elly Sau-Wai

Abstract excerpt

BACKGROUND & AIMS: Hirschsprung disease, or congenital aganglionosis, is believed to be oligogenic-that is, caused by multiple genetic factors. We performed whole-genome sequence analyses of patients with Hirschsprung disease to identify genetic factors that contribute to disease development and analyzed the functional effects of these variants. METHODS: We performed whole-genome sequence analyses of 443 patients...

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PMID: 30217742
DOI: 10.1053/j.gastro.2018.09.012

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