scholarly journals Haplotype Analysis Reveals a Possible Founder Effect of RET Mutation R114H for Hirschsprung's Disease in the Chinese Population

PLoS ONE ◽  
2010 ◽  
Vol 5 (6) ◽  
pp. e10918 ◽  
Author(s):  
Belinda K. Cornes ◽  
Clara S. Tang ◽  
Thomas Y. Y. Leon ◽  
Kenneth J. W. S. Hui ◽  
Man-Ting So ◽  
...  
Keyword(s):  
Founder Effect ◽  
Chinese Population ◽  
Hirschsprung's Disease ◽  
Haplotype Analysis ◽  
Hirschsprung’S Disease ◽  
Ret Mutation

Exome Sequencing Identified NRG3 as a Novel Susceptible Gene of Hirschsprung’s Disease in a Chinese Population

2013 ◽  
Vol 47 (3) ◽  
pp. 957-966 ◽  
Author(s):  
Jun Yang ◽  
Shengyu Duan ◽  
Rong Zhong ◽  
Jieyun Yin ◽  
Jiarui Pu ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Chinese Population ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Susceptible Gene

Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity

2020 ◽  
Author(s):  
Tsukasa Higuchi ◽  
Kazuki Yoshizawa ◽  
Tomoko Hatata ◽  
Katsumi Yoshizawa ◽  
Shigeru Takamizawa ◽  
...  
Keyword(s):  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Clinical Phenotype ◽  
Kinase Domain ◽  
The Novel ◽  
Japanese Family ◽  
Ret Mutation ◽  
Disease Case ◽  
The Relationship ◽  
Generation Sequencing

Abstract RET gene variances confer susceptibility to Hirschsprung's disease (HSCR) with pathogenetic mutations being identified in half of familial cases. This investigation of familial HSCR was aimed to clarify the relationship between genetic mutations and clinical phenotype using next-generation sequencing. A novel c2313C > G(D771E) RET mutation was identified in all three affected family members. The mutation involved the kinase domain, which is believe to impair RET activity and intestinal function. A second RET mutation, c1465G > A(D489N), was found only in the extensive aganglionosis case. We conclude that the novel c2313C > A(D771E) mutation in RET may be pathogenic for HSCR, while the c1465C > G(D489N) mutation may be related to phenotype severity.

scholarly journals Role of RET and ko=PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population

Gut ◽  
2007 ◽  
Vol 56 (5) ◽  
pp. 736-736 ◽  
Author(s):  
X. Miao ◽  
M.-M. Garcia-Barcelo ◽  
M.-t. So ◽  
T. Y.-Y. Leon ◽  
D. K.-c. Lau ◽  
...  
Keyword(s):  
Gene Polymorphisms ◽  
Chinese Population ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease ◽  
Phox2b Gene

scholarly journals RET polymorphisms and the risk of Hirschsprung’s disease in a Chinese population

2008 ◽  
Vol 53 (9) ◽  
pp. 825-833 ◽  
Author(s):  
Cuiping Liu ◽  
Lei Jin ◽  
Hui Li ◽  
Jintu Lou ◽  
Chunfen Luo ◽  
...  
Keyword(s):  
Chinese Population ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease

Diagnosis of Hirschsprung's Disease: Accuracy of Barium Enema Findings

1997 ◽  
Vol 36 (4) ◽  
pp. 631
Author(s):  
Sue Yun Yu ◽  
Gye Yeon Lim ◽  
Ji Yeong Yun ◽  
Seong Tae Hahn ◽  
Hak Hee Kim ◽  
...  
Keyword(s):  
Barium Enema ◽  
Hirschsprung's Disease ◽  
Hirschsprung’S Disease
Sign in / Sign up

Export Citation Format

Share Document