2017
DOI: 10.1186/s13059-017-1174-6
|View full text |Cite
|
Sign up to set email alerts
|

Abstract: BackgroundHirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies that have searched for genes underlying HSCR have focused on ENS-related pathways and genes not fitting the current knowledge have thus often been ignored. We identify and validate novel HSCR genes using whole exome sequencing (WES), burden tests, in silico predicti… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1
1

Citation Types

1
62
0

Year Published

2017
2017
2022
2022

Publication Types

Select...
6
3

Relationship

1
8

Authors

Journals

citations
Cited by 71 publications
(63 citation statements)
references
References 66 publications
1
62
0
Order By: Relevance
“…Among the 19 null variants found by Jiang et al, seven located in RET and 12 in the other 12 different genes. Using whole exome sequencing (WES) in 24 trios of L‐HSCR or TCA patients, Gui et al identified 28 de novo mutations in 14 patients, of which 8 resided in RET . Among 12 new genes with missense or loss‐of‐function mutations, DENND3, NCLN, NUP98, and TBATA were considered as new HSCR causative genes following further validation by zebrafish studies.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Among the 19 null variants found by Jiang et al, seven located in RET and 12 in the other 12 different genes. Using whole exome sequencing (WES) in 24 trios of L‐HSCR or TCA patients, Gui et al identified 28 de novo mutations in 14 patients, of which 8 resided in RET . Among 12 new genes with missense or loss‐of‐function mutations, DENND3, NCLN, NUP98, and TBATA were considered as new HSCR causative genes following further validation by zebrafish studies.…”
Section: Discussionmentioning
confidence: 99%
“…As a paradigm‐shifting technology, next‐generation sequencing (NGS) can provide fast, low‐cost, and accurate DNA/RNA sequencing data. Nowadays, it is widely used to enhance our capability of understanding multigenic diseases, such as HSCR . In this study, we aimed to investigate the genetic backgrounds of L‐HSCR patients in Taiwan using capture‐based NGS.…”
Section: Introductionmentioning
confidence: 99%
“…HSCR seems to compile a combination of common non‐coding/rare coding/copy‐number variants on genes implicated on ENS development, providing a more complete understanding of the genetics of the disease . WES and functional analyses of genes containing de novo mutations, contribute to delineate the genetic background of HSCR . Recently, it has been established the implication of the in‐frameshift variant p.Phe147del in RET in heritable HSCR …”
Section: Other Genes and Susceptibility Locimentioning
confidence: 99%
“…Hirschsprung disease is a rare disorder characterised by aberrant development of enteric neurons, resulting in an absence of innervation in parts of the colon. Whole exome sequencing (WES) analysis of 24 trios, comprised of patients with Hirschsprung disease and their parents, led to the discovery of several novel LOF and missense variants in genes with no prior links to either enteric nervous system development or Hirschsprung disease pathogenesis 18. Given an absence of clues that would substantiate the pathogenicity of these variants in patients, the authors investigated the effects of LOF of zebrafish orthologues for 12 of these candidate genes on enteric nervous system development.…”
Section: Using Zebrafish To Model Rare Genetic Diseasesmentioning
confidence: 99%