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Book Chapter: Genetics of Hirschsprung’s Disease

TitleGenetics of Hirschsprung’s Disease
Authors
Tam, PKHTang, SMGarcia-Barcelo, MM
KeywordsHirschsprung disease
Genes
Mutations
Common variants
Copy number variants
Issue Date2019
PublisherSpringer International Publishing.
Citation
Genetics of Hirschsprung’s Disease. In Puri, P (Eds.), Hirschsprung's Disease and Allied Disorders (Fourth Edition), p. 121-131. Cham: Springer International Publishing, 2019 How to Cite?
DOI: http://dx.doi.org/10.1007/978-3-030-15647-3_7
AbstractHirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the enteric nervous system (ENS) whereby ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. HSCR is a complex disease that mainly results from the interaction of several genes and manifests with low, sex-dependent penetrance and variability in the length of the aganglionic segment. The genetic complexity observed in HSCR can be conceptually understood in the light of the molecular and cellular events that take place during ENS development. DNA alterations in any of the genes involved in the ENS development may interfere with the colonization process and represent a primary aetiology for HSCR. This review will focus on the genes known to be involved in HSCR pathology, how they interact and on how technological advances are being employed to uncover the pathological processes underlying this disease.
Persistent Identifierhttp://hdl.handle.net/10722/272046
ISBN
9783030156466

 

DC FieldValueLanguage
dc.contributor.authorTam, PKH-
dc.contributor.authorTang, SM-
dc.contributor.authorGarcia-Barcelo, MM-
dc.date.accessioned2019-07-20T10:34:35Z-
dc.date.available2019-07-20T10:34:35Z-
dc.date.issued2019-
dc.identifier.citationGenetics of Hirschsprung’s Disease. In Puri, P (Eds.), Hirschsprung's Disease and Allied Disorders (Fourth Edition), p. 121-131. Cham: Springer International Publishing, 2019-
dc.identifier.isbn9783030156466-
dc.identifier.urihttp://hdl.handle.net/10722/272046-
dc.description.abstractHirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the lower digestive tract. Aganglionosis is attributed to a disorder of the enteric nervous system (ENS) whereby ganglion cells fail to innervate the lower gastrointestinal tract during embryonic development. HSCR is a complex disease that mainly results from the interaction of several genes and manifests with low, sex-dependent penetrance and variability in the length of the aganglionic segment. The genetic complexity observed in HSCR can be conceptually understood in the light of the molecular and cellular events that take place during ENS development. DNA alterations in any of the genes involved in the ENS development may interfere with the colonization process and represent a primary aetiology for HSCR. This review will focus on the genes known to be involved in HSCR pathology, how they interact and on how technological advances are being employed to uncover the pathological processes underlying this disease.-
dc.languageeng-
dc.publisherSpringer International Publishing.-
dc.relation.ispartofHirschsprung's Disease and Allied Disorders (Fourth Edition)-
dc.subjectHirschsprung disease-
dc.subjectGenes-
dc.subjectMutations-
dc.subjectCommon variants-
dc.subjectCopy number variants-
dc.titleGenetics of Hirschsprung’s Disease-
dc.typeBook_Chapter-
dc.identifier.emailTam, PKH: paultam@hku.hk-
dc.identifier.emailTang, SM: claratang@hku.hk-
dc.identifier.emailGarcia-Barcelo, MM: mmgarcia@hku.hk-
dc.identifier.authorityTam, PKH=rp00060-
dc.identifier.authorityTang, SM=rp02105-
dc.identifier.authorityGarcia-Barcelo, MM=rp00445-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/978-3-030-15647-3_7-
dc.identifier.hkuros299524-
dc.identifier.spage121-
dc.identifier.epage131-
dc.publisher.placeCham-

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