High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.

Hui-Yang DingWen LeiShang-Jie XiaoHua DengLi-Ke YuanLu XuJia-Liang ZhouRong HuangYuan-Long FangQing-Yuan WangYing ZhangLiang ZhangXiao-Chun Zhu

Published in: Pediatric surgery international (2024)

We identified a novel EDNRB (deleted C and inserted TT) mutation in this study using WES. Heterozygote variations in EDNRB gene were significantly enriched in three families and RET mutations were identified in one family. EDNRB variants showed an overall higher incidence and penetrance than RET in southern Chinese families cases.

Keyphrases

risk factors
copy number
genome wide
early onset
gene expression
transcription factor
dna methylation
genome wide identification