Hirschsprung disease, associated syndromes and genetics: a review

Amiel, Jeanne; Lyonnet, Stanislas

doi:10.1136/jmg.2007.053959

Cited by 888 publications

(603 citation statements)

References 234 publications

(236 reference statements)

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“…DiGeorge syndrome, characterized by heart defects, craniofacial abnormalities and severe retardation, has been linked to chromosome deletions that result in migratory defects of the neural crest cells (Epstein, 2001;Epstein and Parmacek, 2005;Gitler et al, 2002;Hutson and Kirby, 2007;Stoller and Epstein, 2005). Hirschsprung's disease, characterized by impaired bowel movement, is related to defects in migration of the vagal and sacral neural crest lineages that populate the gastrointestinal system and subsequently differentiate into the neurons responsible for gut innervation (Amiel et al, 2008;Heanue and Pachnis, 2007;Tucker, 2004). Waardenburg's syndrome, characterized by abnormal pigmentation, results from the impaired migration of neural crest cells that give rise to the melanocytes of the skin (Tachibana et al, 2003;Tucker, 2004).…”

Section: Cell Migration and Human Diseasementioning

confidence: 99%

Cell biology of embryonic migration

Kurosaka¹,

Kashina²

2008

Birth Defects Research Pt C

118

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Cell migration is an evolutionarily conserved mechanism that underlies the development and functioning of uni-and multicellular organisms and takes place in normal and pathogenic processes, including various events of embryogenesis, wound healing, immune response, cancer metastases, and angiogenesis. Despite the differences in the cell types that take part in different migratory events, it is believed that all of these migrations occur by similar molecular mechanisms, whose major components have been functionally conserved in evolution and whose perturbation leads to severe developmental defects. These mechanisms involve intricate cytoskeleton-based molecular machines that can sense the environment, respond to signals, and modulate the entire cell behavior. A big question that has concerned the researchers for decades relates to the coordination of cell migration in situ and its relation to the intracellular aspects of the cell migratory mechanisms. Traditionally, this question has been addressed by researchers that considered the intra-and extracellular mechanisms driving migration in separate sets of studies. As more data accumulate researchers are now able to integrate all of the available information and consider the intracellular mechanisms of cell migration in the context of the developing organisms that contain additional levels of complexity provided by extracellular regulation. This review provides a broad summary of the existing and emerging data in the cell and developmental biology fields regarding cell migration during development.

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Section: Cell Migration and Human Diseasementioning

confidence: 99%

Cell biology of embryonic migration

Kurosaka¹,

Kashina²

2008

Birth Defects Research Pt C

118

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“…A small subgroup of patients present a rare coding sequence mutation (CDS) of the RET gene with a high and sex-dependent penetrance. 1,2 The remaining group of patients have a risk allele for a noncoding polymorphism in an enhancer element of IVS1, rs2435357, with a low and sex-dependent penetrance [3][4][5][6] (found in 90% of the patient alleles versus 19.4% in the 1000 genomes project). The subgroup with RET CDS mutations represents B45% of familial cases and 7-20% of sporadic cases.…”

Section: Introductionmentioning

confidence: 99%

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

et al. 2012

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Hirschsprung disease (HSCR, aganglionic megacolon) is a complex and heterogeneous disease with an incidence of 1 in 5000 live births. Despite the multifactorial determination of HSCR in the vast majority of cases, there is a monogenic subgroup for which private rare RET coding sequence mutations with high penetrance are found (45% of HSCR familial cases). An asymmetrical parental origin is observed for RET coding sequence mutations with a higher maternal inheritance. A parent-oforigin effect is usually assumed. Here we show that a differential reproductive rate for males and females also leads to an asymmetrical parental origin, which was never considered as a possible explanation till now. In the case of HSCR, we show a positive association between penetrance of the mutation and parental transmission asymmetry: no parental transmission asymmetry is observed in sporadic RET CDS mutation carrier cases for which penetrance of the mutation is low, whereas a parental transmission asymmetry is observed in affected sib-pairs for which penetrance of the mutation is higher. This allows us to conclude that the explanation for this parental asymmetry is that more severe mutations have resulted in a differential reproductive rate between male and female carriers.

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“…Any event that can disrupt these mentioned processes may cause Hirschsprung's disease (HSCR),1 which is regarded as a serious congenital disease with postponement of meconium, abdominal distention and so on 2, 3. In Asia, the morbidity rat of HSCR is up to 2.8:10 000 that is much higher than other continents, such as Europe; and the gender ratio is around 4:1 (male: female) worldwide 4.…”

Section: Introductionmentioning

confidence: 99%

IGF2‐derived miR‐483‐3p associated with Hirschsprung's disease by targeting FHL1

Zhi

Zhu

et al. 2018

J Cellular Molecular Medi

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HSCR (Hirschsprung's disease) is a serious congenital defect, and the aetiology of it remains unclear. Many studies have highlighted the significant roles of intronic miRNAs and their host genes in various disease, few was mentioned in HSCR although. In this study, miR‐483‐3p along with its host gene IGF2 (Insulin‐like growth factor 2) was found down‐regulated in 60 HSCR aganglionic colon tissues compared with 60 normal controls. FHL1 (Four and a half LIM domains 1) was determined as a target gene of miR‐483‐3p via dual‐luciferase reporter assay, and its expression was at a higher level in HSCR tissues. Here, we study cell migration and proliferation in human 293T and SH‐SY5Y cell lines by performing Transwell and CCK8 assays. In conclusion, the knockdown of miR‐483‐3p and IGF2 both suppressed cell migration and proliferation, while the loss of FHL1 leads to opposite outcome. Furthermore, miR‐483‐3p mimics could rescue the negative effects on cell proliferation and migration caused by silencing IGF2, while the FHL1 siRNA may inverse the function of miR‐483‐3p inhibitor. This study revealed that miR‐483‐3p derived from IGF2 was associated with Hirschsprung's disease by targeting FHL1 and may provide a new pathway to understand the aetiology of HSCR.

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Hirschsprung disease, associated syndromes and genetics: a review

Cited by 888 publications

References 234 publications

Cell biology of embryonic migration

Cell biology of embryonic migration

Male and female differential reproductive rate could explain parental transmission asymmetry of mutation origin in Hirschsprung disease

IGF2‐derived miR‐483‐3p associated with Hirschsprung's disease by targeting FHL1

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