Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations

Abstract 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 p...

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Bibliographic Details
Main Authors: Qian Jiang, Yang Wang, Qi Li, Zhen Zhang, Ping Xiao, Hui Wang, Na Liu, Jian Wu, Feng Zhang, Aravinda Chakravarti, Wei Cai, Long Li
Format: Article
Language:English
Published: BMC 2019-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
RET
Parental mosaicism
High coverage NGS
ddPCR
Chinese HSCR
Online Access:http://link.springer.com/article/10.1186/s13023-019-1194-2

Internet

http://link.springer.com/article/10.1186/s13023-019-1194-2

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