2012
DOI: 10.1002/ar.22538
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Advances in Molecular Genetics of Hirschsprung's Disease

Abstract: Hirschsprung's disease (HSCR) is a developmental disorder of the enteric nervous system, which occurs due to the failure of neural crest cells to fully colonize the gut during embryonic development. It is characterized by the absence of the enteric ganglia in a variable length of the intestine. Substantial progress has been made in understanding the genetic basis of HSCR with the help of advanced genetic analysis techniques and animal models. More than 11 genes have been found to be involved in the pathogenesi… Show more

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Cited by 25 publications
(23 citation statements)
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References 109 publications
(101 reference statements)
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“…In live births, the incidence of this disease is about 1:2000-1:5000, while males are affected 4 times more often than females [5]. It is characterized that the migration of the enteric neural crest cells (ENCCs) stopped and failed to get to the hindgut during embryogenesis from 5 to 12 weeks, which caused the absence of ganglia cells in the intramural and submucosal along variable lengths of gastrointestinal tract [6].…”
Section: Introductionmentioning
confidence: 99%
“…In live births, the incidence of this disease is about 1:2000-1:5000, while males are affected 4 times more often than females [5]. It is characterized that the migration of the enteric neural crest cells (ENCCs) stopped and failed to get to the hindgut during embryogenesis from 5 to 12 weeks, which caused the absence of ganglia cells in the intramural and submucosal along variable lengths of gastrointestinal tract [6].…”
Section: Introductionmentioning
confidence: 99%
“…Gain-of-function mutations in RET cause multiple endocrine neoplasia (MEN) type 2 and FMTC [53]. On the contrary, loss-of-function mutations in RET are known to be risk factors for Hirschsprung disease (HSCR), which is caused by the congenital absence of parasympathetic ganglion cells in the intestinal tissues [54]. Furthermore, several mutations of this gene have also been reported in patients with congenital central hypoventilation syndrome (CCHS) [55].…”
Section: Multiple Endocrine Neoplasia Type 2 and Familial Medullary Tmentioning
confidence: 99%
“…The aganglionic intestinal segment is unable to relax, which leads to functional obstruction. [811]…”
Section: Introductionmentioning
confidence: 99%